ClinVar Miner

Submissions for variant NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp) (rs77938727)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000000449 SCV000267445 uncertain significance Glycogen storage disease type X 2016-03-18 criteria provided, single submitter reference population
Invitae RCV000973893 SCV001121682 benign not provided 2018-11-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000000449 SCV001320561 benign Glycogen storage disease type X 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx RCV000973893 SCV001859033 benign not provided 2021-02-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 6308514, 30445427, 10545043, 22995991, 8447317)
OMIM RCV000000449 SCV000020598 pathogenic Glycogen storage disease type X 1999-10-01 no assertion criteria provided literature only

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