The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- No ClinVar Id was directly found from the curated document
Variant: NM_024675.4:c.2787_2788dup
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA915941070
Gene: PALB2
Condition: hereditary breast cancer
Inheritance Mode: Autosomal dominant inheritance
UUID: 5e667e74-d7fc-4604-bac1-2edcf9f0c2df
Approved on: 2023-04-05
Published on: 2023-04-07
HGVS expressions
NM_024675.4:c.2787_2788dup
NC_000016.10:g.23624057_23624058dup
CM000678.2:g.23624057_23624058dup
NC_000016.9:g.23635378_23635379dup
CM000678.1:g.23635378_23635379dup
NC_000016.8:g.23542879_23542880dup
NG_007406.1:g.22302_22303dup
ENST00000261584.9:c.2787_2788dup
ENST00000261584.8:c.2787_2788dup
ENST00000568219.5:c.1902_1903dup
NM_024675.3:c.2787_2788dup
Evidence submitted by expert panel
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.