ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4953+17G>A

gnomAD frequency: 0.00012  dbSNP: rs376604168
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242958 SCV000303246 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001689787 SCV001909824 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Invitae RCV002057326 SCV002348600 likely benign Hypertrophic cardiomyopathy 2024-01-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000242958 SCV002765998 likely benign not specified 2023-08-26 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000242958 SCV001924469 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001689787 SCV001931065 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000242958 SCV001972559 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001689787 SCV001979382 likely benign not provided no assertion criteria provided clinical testing

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