ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.4027G>A (p.Glu1343Lys) (rs112795811)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537200 SCV000626746 benign Glycogen storage disease type III 2020-12-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000596686 SCV000700584 likely benign not specified 2017-03-14 criteria provided, single submitter clinical testing
GeneDx RCV001697017 SCV000731141 likely benign not provided 2018-04-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17895567, 17047887, 15542399, 10982190, 20158661, 16189622, 11949933, 10925384, 31661040)
Illumina Clinical Services Laboratory,Illumina RCV000537200 SCV001256863 likely benign Glycogen storage disease type III 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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