ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.2085G>A (p.Gly695=)

dbSNP: rs147725917
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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 RCV002171297 SCV002426293 likely benign Glycogen storage disease, type V 2023-06-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003970985 SCV004778388 likely benign PYGM-related disorder 2022-04-07 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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