ClinVar Miner

Submissions for variant NM_017636.4(TRPM4):c.2733G>A (p.Thr911=)

gnomAD frequency: 0.00002  dbSNP: rs756464554
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001966297 SCV002255443 likely benign Progressive familial heart block type IB 2023-07-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002441121 SCV002746100 likely benign Cardiovascular phenotype 2020-11-25 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.
Fulgent Genetics, Fulgent Genetics RCV002497906 SCV002814183 uncertain significance Progressive familial heart block type IB; Erythrokeratodermia variabilis et progressiva 6 2021-11-02 criteria provided, single submitter clinical testing

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