ClinVar Miner

Submissions for variant NM_017636.4(TRPM4):c.2283_2294del (p.759_762CGGR[1]) (rs113100797)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468287 SCV000560589 benign Progressive familial heart block type 1B 2017-07-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621486 SCV000735110 benign Cardiovascular phenotype 2016-06-07 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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000623427 SCV000740387 likely benign not specified 2017-05-18 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852764 SCV000995482 likely benign Restrictive cardiomyopathy; Cardiomyopathy 2019-01-22 criteria provided, single submitter clinical testing

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