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_000257.4(MYH7):c.3134G>T (p.Arg1045Leu)
CA013375
42948 (ClinVar)
Gene: MYH7
Condition: hypertrophic cardiomyopathy
Inheritance Mode: Autosomal dominant inheritance
UUID: 40ccb7f9-d0a7-4e61-9756-8fef5c463031
Approved on: 2021-08-25
Published on: 2021-10-01
HGVS expressions
NM_000257.4:c.3134G>T
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu)
ENST00000355349.4:c.3134G>T
ENST00000355349.3:c.3134G>T
NM_000257.3:c.3134G>T
NC_000014.9:g.23422291C>A
CM000676.2:g.23422291C>A
NC_000014.8:g.23891500C>A
CM000676.1:g.23891500C>A
NC_000014.7:g.22961340C>A
NG_007884.1:g.18371G>T
Evidence submitted by expert panel
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