ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4083T>G (p.Leu1361=)

gnomAD frequency: 0.00004  dbSNP: rs754295295
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618726 SCV000736594 likely benign Cardiovascular phenotype 2016-05-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Color Diagnostics, LLC DBA Color Health RCV001189441 SCV001356733 likely benign Cardiomyopathy 2019-04-14 criteria provided, single submitter clinical testing
Invitae RCV001419243 SCV001621491 likely benign Hypertrophic cardiomyopathy 2022-10-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506149 SCV002810235 likely 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 2021-08-19 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001701014 SCV001921366 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000470136 SCV001930961 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000470136 SCV001955102 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000470136 SCV001966877 likely benign not provided no assertion criteria provided clinical testing

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