ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.661T>C (p.Phe221Leu) (rs558770240)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183469 SCV000235929 benign not specified 2017-03-09 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.
Invitae RCV000206653 SCV000260978 benign Hypertrophic cardiomyopathy 2020-12-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000183469 SCV000269186 benign not specified 2015-10-22 criteria provided, single submitter clinical testing p.Phe221Leu in exon 2 of JPH2: This variant is not expected to have clinical sig nificance due to high population frequency. It has been identified in 4.82% (8/ 166) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://ex ac.broadinstitute.org; rs558770240).
Ambry Genetics RCV000247052 SCV000320407 benign Cardiovascular phenotype 2017-03-06 criteria provided, single submitter clinical testing Internal frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000183469 SCV000333072 benign not specified 2017-04-12 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515223 SCV000611476 uncertain significance Familial hypertrophic cardiomyopathy 17 2017-05-23 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000183469 SCV001433480 likely benign not specified 2019-03-19 criteria provided, single submitter clinical testing

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