ClinVar Miner

Submissions for variant NM_079420.3(MYL1):c.1dup (p.Met1fs)

dbSNP: rs544557603
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001656395 SCV001862597 benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501991 SCV002808245 benign Congenital myopathy with reduced type 2 muscle fibers 2022-01-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975784 SCV004788002 benign MYL1-related disorder 2019-10-30 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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