ClinVar Miner

Submissions for variant NM_017636.4(TRPM4):c.1368C>G (p.Thr456=) (rs56118173)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227551 SCV000290316 benign Progressive familial heart block type 1B 2017-09-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306701 SCV000414293 uncertain significance Progressive familial heart block 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000420786 SCV000532175 likely benign not specified 2017-04-10 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.
Ambry Genetics RCV000620174 SCV000735092 likely benign Cardiovascular phenotype 2015-07-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756816 SCV000884736 benign not provided 2017-05-08 criteria provided, single submitter clinical testing

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