ClinVar Miner

Submissions for variant NM_017636.4(TRPM4):c.1682A>C (p.Asp561Ala) (rs56355369)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230584 SCV000290320 benign not provided 2019-02-15 criteria provided, single submitter clinical testing
GeneDx RCV000438955 SCV000533262 benign not specified 2016-11-29 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 RCV000620360 SCV000735390 likely benign Cardiovascular phenotype 2017-06-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852761 SCV000995479 benign Arrhythmogenic right ventricular cardiomyopathy; Cardiomyopathy 2019-03-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001338 SCV001158530 likely benign Progressive familial heart block type 1B 2019-04-16 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157549 SCV000207295 uncertain significance Ventricular fibrillation 2014-05-07 no assertion criteria provided clinical testing

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