ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.1074G>A (p.Ser358=)

gnomAD frequency: 0.00001  dbSNP: rs377104916
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000869839 SCV001011298 likely benign Arrhythmogenic right ventricular dysplasia 5 2023-11-25 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001182551 SCV001348024 likely benign Cardiomyopathy 2018-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002416040 SCV002723663 likely benign Cardiovascular phenotype 2019-11-21 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.
All of Us Research Program, National Institutes of Health RCV000869839 SCV004841607 likely benign Arrhythmogenic right ventricular dysplasia 5 2023-08-15 criteria provided, single submitter clinical testing

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