ClinVar Miner

Submissions for variant NM_133642.5(LARGE1):c.924G>A (p.Arg308=)

dbSNP: rs528836583
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000549021 SCV000639010 benign Muscular dystrophy-dystroglycanopathy type B6 2025-01-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962512 SCV004784017 likely benign LARGE1-related disorder 2019-09-19 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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