ClinVar Miner

Submissions for variant NM_002469.3(MYF6):c.528T>C (p.Gly176=)

gnomAD frequency: 0.00060  dbSNP: rs145205388
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501504 SCV000595878 likely benign not specified 2016-07-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003227485 SCV000651973 likely benign Autosomal dominant centronuclear myopathy 2023-12-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002510909 SCV002821730 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing MYF6: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV002510909 SCV005216189 likely benign not provided criteria provided, single submitter not provided

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