ClinVar Miner

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

dbSNP: rs113100797
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Total submissions: 6
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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 IB 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621486 SCV000735110 benign Cardiovascular phenotype 2016-06-07 criteria provided, single submitter clinical testing 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
GeneDx RCV001653851 SCV001864111 benign not provided 2016-10-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000623427 SCV004241217 likely benign not specified 2023-12-17 criteria provided, single submitter clinical testing

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