ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.1275A>G (p.Ala425=)

dbSNP: rs140678912
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725807 SCV000339525 uncertain significance not provided 2018-01-24 criteria provided, single submitter clinical testing
GeneDx RCV000725807 SCV000527697 likely benign not provided 2021-06-24 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000363482 SCV000614146 benign not specified 2017-06-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088610 SCV001118109 likely benign Myofibrillar myopathy 3 2024-01-29 criteria provided, single submitter clinical testing

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