ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.324C>T (p.Val108=)

gnomAD frequency: 0.00001  dbSNP: rs371279985
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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 RCV000866404 SCV001007493 likely benign Arrhythmogenic right ventricular dysplasia 5 2023-07-17 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001176880 SCV001340959 likely benign Cardiomyopathy 2018-03-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV003307607 SCV003999468 likely benign Cardiovascular phenotype 2023-03-26 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 RCV000866404 SCV004841490 likely benign Arrhythmogenic right ventricular dysplasia 5 2023-12-13 criteria provided, single submitter clinical testing

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