ClinVar Genomic variation as it relates to human health
NM_000256.3(MYBPC3):c.3713_3714del (p.Leu1238fs)
Germline
Classification
(3)
Pathogenic/Likely pathogenic
criteria provided, multiple submitters, no conflicts
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
MYBPC3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3679 | 3696 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 15, 2022 | RCV003062364.2 | |
Likely pathogenic (1) |
|
Mar 19, 2023 | RCV003323303.1 | |
Likely pathogenic (1) |
|
Aug 17, 2021 | RCV003150581.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024