ClinVar Miner

Submissions for variant NM_017636.4(TRPM4):c.249C>T (p.Ala83=)

dbSNP: rs142270489
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001087968 SCV000560578 benign Progressive familial heart block type IB 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618066 SCV000735646 likely benign Cardiovascular phenotype 2016-12-02 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.
GeneDx RCV000835832 SCV000977653 likely benign not provided 2020-01-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004701522 SCV005204984 benign not specified 2024-06-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000835832 SCV005209830 likely benign not provided criteria provided, single submitter not provided

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