ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.648G>A (p.Lys216=)

gnomAD frequency: 0.00029  dbSNP: rs796219248
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000252748 SCV000319724 likely benign Cardiovascular phenotype 2015-05-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000553301 SCV000623875 likely benign Hypertrophic cardiomyopathy 2023-12-12 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000614550 SCV000743103 likely benign Hypertrophic cardiomyopathy 17 2017-11-09 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000614550 SCV000744112 likely benign Hypertrophic cardiomyopathy 17 2015-09-21 criteria provided, single submitter clinical testing
GeneDx RCV001594927 SCV001828008 benign not provided 2015-09-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001594927 SCV004562704 likely benign not provided 2023-10-10 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000614550 SCV000734072 likely benign Hypertrophic cardiomyopathy 17 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001698664 SCV001917119 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001594927 SCV001958796 likely benign not provided no assertion criteria provided clinical testing

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