ClinVar Miner

Submissions for variant NM_017636.4(TRPM4):c.3082C>T (p.Leu1028=) (rs79286201)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000302540 SCV000414313 likely benign Progressive familial heart block 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000431716 SCV000521408 benign not specified 2016-10-14 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.
Invitae RCV000460158 SCV000560588 benign not provided 2019-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619277 SCV000735166 benign Cardiovascular phenotype 2016-12-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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