ClinVar Miner

Submissions for variant NM_020433.4(JPH2):c.1380G>A (p.Ala460=) (rs531877510)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724582 SCV000230381 uncertain significance not provided 2015-02-23 criteria provided, single submitter clinical testing
GeneDx RCV000178322 SCV000729348 benign not specified 2015-07-28 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 RCV000617546 SCV000740161 likely benign Cardiovascular phenotype 2017-06-29 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000178322 SCV000740574 likely benign not specified 2017-06-22 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000607692 SCV000744107 likely benign Familial hypertrophic cardiomyopathy 17 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV001089382 SCV000749953 likely benign Hypertrophic cardiomyopathy 2020-10-15 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000607692 SCV000734068 likely benign Familial hypertrophic cardiomyopathy 17 no assertion criteria provided clinical testing

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