ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.180G>A (p.Thr60=)

gnomAD frequency: 0.00003  dbSNP: rs765703685
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698102 SCV000724297 likely benign not provided 2021-01-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000642427 SCV000764105 likely benign Arrhythmogenic right ventricular dysplasia 5 2025-01-22 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001186226 SCV001352593 likely benign Cardiomyopathy 2019-02-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002413738 SCV002713234 likely benign Cardiovascular phenotype 2022-10-02 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.
All of Us Research Program, National Institutes of Health RCV000642427 SCV004841473 likely benign Arrhythmogenic right ventricular dysplasia 5 2024-07-20 criteria provided, single submitter clinical testing

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