ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.765C>T (p.Thr255=)

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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 RCV003786520 SCV004570541 likely benign Glycogen storage disease XV; Polyglucosan body myopathy type 2 2023-02-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003893392 SCV004712925 likely benign GYG1-related disorder 2023-08-05 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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