ClinVar Miner

Submissions for variant NM_021957.4(GYS2):c.1889C>T (p.Thr630Met) (rs140646346)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000892112 SCV001035970 benign Glycogen storage disease due to hepatic glycogen synthase deficiency 2020-10-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000892112 SCV001269167 likely benign Glycogen storage disease due to hepatic glycogen synthase deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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