ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3893C>T (p.Ala1298Val)

gnomAD frequency: 0.00012  dbSNP: rs368588052
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463802 SCV000546144 likely benign Hypertrophic cardiomyopathy 14 2023-12-21 criteria provided, single submitter clinical testing
GeneDx RCV001545949 SCV001765380 likely benign not provided 2018-07-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27789736)
Ambry Genetics RCV002362841 SCV002624361 likely benign Cardiovascular phenotype 2020-11-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002492608 SCV002794873 likely benign Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2021-10-09 criteria provided, single submitter clinical testing
Dept of Medical Biology, Uskudar University RCV003318358 SCV004022077 uncertain significance Long QT syndrome 2024-01-08 criteria provided, single submitter research Criteria: PP3
Blueprint Genetics RCV000157338 SCV000207075 likely benign Primary familial hypertrophic cardiomyopathy 2014-10-06 no assertion criteria provided clinical testing

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