ClinVar Miner

Submissions for variant NM_021957.4(GYS2):c.1880C>T (p.Ser627Leu) (rs182582633)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000945289 SCV001091281 likely benign not provided 2018-12-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001111599 SCV001269168 uncertain significance 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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