ClinVar Miner

Submissions for variant NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser) (rs172149856)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208117 SCV000264272 uncertain significance Brugada syndrome 2015-05-21 criteria provided, single submitter clinical testing
Invitae RCV000029158 SCV000290321 likely benign Progressive familial heart block type 1B 2017-09-06 criteria provided, single submitter clinical testing
GeneDx RCV000443548 SCV000521220 likely benign not specified 2017-09-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000029158 SCV000745391 uncertain significance Progressive familial heart block type 1B 2017-11-07 criteria provided, single submitter clinical testing
OMIM RCV000029158 SCV000051803 pathogenic Progressive familial heart block type 1B 2012-01-01 no assertion criteria provided literature only

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