ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4520-25C>T

gnomAD frequency: 0.00787  dbSNP: rs45503601
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000168905 SCV000303240 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000629119 SCV000750033 benign Hypertrophic cardiomyopathy 2024-01-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001589049 SCV001159507 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
GeneDx RCV001589049 SCV001824742 likely benign not provided 2018-06-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15483641)
CeGaT Center for Human Genetics Tuebingen RCV001589049 SCV002545161 benign not provided 2023-11-01 criteria provided, single submitter clinical testing MYH7: BS1, BS2
Fulgent Genetics, Fulgent Genetics RCV002478523 SCV002801895 benign Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 2021-11-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000168905 SCV001927113 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000168905 SCV001959520 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000168905 SCV001969118 benign not specified no assertion criteria provided clinical testing

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