ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.894T>C (p.His298=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002449888 SCV002682084 likely benign Cardiovascular phenotype 2022-02-18 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003100065 SCV003021088 likely benign Arrhythmogenic right ventricular dysplasia 5 2022-04-24 criteria provided, single submitter clinical testing

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