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
CA8622991
Gene: ITGB3
Condition: Glanzmann thrombasthenia
Inheritance Mode: Autosomal recessive inheritance
UUID: a90a149d-36d4-418d-b5ec-21892e80b517
Approved on: 2023-01-17
Published on: 2023-02-15
HGVS expressions
NM_000212.3:c.602del
NC_000017.11:g.47284683del
CM000679.2:g.47284683del
NC_000017.10:g.45362049del
CM000679.1:g.45362049del
NC_000017.9:g.42717048del
NG_008332.2:g.35842del
ENST00000559488.7:c.602del
ENST00000559488.5:c.602del
ENST00000560629.1:n.567del
ENST00000571680.1:c.602del
NM_000212.2:c.602del
Evidence submitted by expert panel
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