ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4353+17G>A

gnomAD frequency: 0.01445  dbSNP: rs45581933
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000168903 SCV000303236 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001651037 SCV001477832 benign not provided 2023-09-06 criteria provided, single submitter clinical testing
GeneDx RCV001651037 SCV001868747 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Invitae RCV002054012 SCV002401877 benign Hypertrophic cardiomyopathy 2024-02-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000168903 SCV001740889 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000168903 SCV001922867 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000168903 SCV001952058 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000168903 SCV001966240 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000168903 SCV001978230 benign not specified no assertion criteria provided clinical testing
Cohesion Phenomics RCV002054012 SCV003803029 benign Hypertrophic cardiomyopathy 2022-10-10 no assertion criteria provided clinical testing

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