ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.380-6C>T

gnomAD frequency: 0.00201  dbSNP: rs201197277
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125443 SCV000168895 benign not specified 2014-01-20 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 RCV000205602 SCV000261181 benign Hypertrophic cardiomyopathy 2024-01-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000125443 SCV000269184 benign not specified 2015-04-03 criteria provided, single submitter clinical testing c.380-6C>T in intron 2 of JPH2: This variant is not expected to have clinical si gnificance because a C>T change at this position does not significantly alter th e splice consensus sequence and is not predicted to impact splicing. It has also been identified in 1.42% (171/12072) of South Asian chromosomes and 0.3% of Eur opean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadin stitute.org; dbSNP rs201197277).
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000606774 SCV000743105 benign Hypertrophic cardiomyopathy 17 2017-03-02 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000606774 SCV000744115 benign Hypertrophic cardiomyopathy 17 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000606774 SCV000734074 likely benign Hypertrophic cardiomyopathy 17 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000125443 SCV001922568 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000125443 SCV001951480 benign not specified no assertion criteria provided clinical testing

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