ClinVar Miner

Submissions for variant NM_017636.4(TRPM4):c.1164G>A (p.Ser388=)

gnomAD frequency: 0.00090  dbSNP: rs144201184
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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 RCV000559534 SCV000646084 benign Progressive familial heart block type IB 2025-02-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621064 SCV000735419 likely benign Cardiovascular phenotype 2016-06-14 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 RCV001584300 SCV001811062 likely benign not provided 2021-03-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004586781 SCV005077114 benign not specified 2024-04-21 criteria provided, single submitter clinical testing

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