ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.562C>T (p.Pro188Ser)

gnomAD frequency: 0.00214  dbSNP: rs574746149
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205357 SCV000260977 benign Hypertrophic cardiomyopathy 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000246823 SCV000318718 likely benign Cardiovascular phenotype 2018-08-26 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.
GeneDx RCV001722126 SCV000524616 likely benign not provided 2020-09-11 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625202 SCV000744114 likely benign Hypertrophic cardiomyopathy 17 2017-05-31 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852953 SCV000995700 benign Cardiomyopathy 2019-01-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001722126 SCV001157621 benign not provided 2022-05-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003937783 SCV004754769 benign JPH2-related disorder 2019-11-11 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center RCV000424518 SCV001921225 benign not specified no assertion criteria provided clinical testing

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