ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.265G>A (p.Val89Met)

dbSNP: rs147319971
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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 RCV000642438 SCV000764116 likely benign Arrhythmogenic right ventricular dysplasia 5 2024-01-11 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001176309 SCV001340226 likely benign Cardiomyopathy 2018-12-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424447 SCV002744111 benign Cardiovascular phenotype 2021-10-28 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV002493003 SCV002799093 likely benign Arrhythmogenic right ventricular dysplasia 5; Emery-Dreifuss muscular dystrophy 7, autosomal dominant; Auditory neuropathy, autosomal dominant 3 2021-07-23 criteria provided, single submitter clinical testing

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