ClinVar Miner

Submissions for variant NM_021957.4(GYS2):c.750T>C (p.His250=)

gnomAD frequency: 0.00005  dbSNP: rs200713752
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000642240 SCV000763899 likely benign Glycogen storage disorder due to hepatic glycogen synthase deficiency 2023-01-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945621 SCV004773020 likely benign GYS2-related condition 2023-05-01 criteria provided, single submitter 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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