The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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- See Evidence submitted by expert panel for details.
Variant: NM_000257.3(MYH7):c.1477_1478delAT (p.Met493Valfs)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA010796
177817 (ClinVar)
Gene: MYH7
Condition: cardiomyopathy
Inheritance Mode: Autosomal dominant inheritance
UUID: 8d697e74-5cec-4ffa-a116-f83b4f8fb2b8
Approved on: 2021-11-30
Published on: 2021-12-09
HGVS expressions
NM_000257.3:c.1477_1478delAT
NM_000257.3(MYH7):c.1477_1478delAT (p.Met493Valfs)
NC_000014.9:g.23428600_23428601del
CM000676.2:g.23428600_23428601del
NC_000014.8:g.23897809_23897810del
CM000676.1:g.23897809_23897810del
NC_000014.7:g.22967649_22967650del
NG_007884.1:g.12061_12062del
ENST00000355349.4:c.1477_1478del
ENST00000355349.3:c.1477_1478del
NM_000257.3:c.1477_1478del
NM_000257.4:c.1477_1478del
NM_000257.4(MYH7):c.1477_1478del (p.Met493fs)
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Evidence submitted by expert panel
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