ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.2522C>T (p.Ser841Phe) (rs150441555)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000248989 SCV000305383 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000248989 SCV000521968 benign not specified 2018-03-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487867 SCV000574777 likely benign not provided 2020-01-01 criteria provided, single submitter clinical testing
Invitae RCV001083232 SCV000626698 benign Glycogen storage disease type III 2020-12-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001083232 SCV001258890 uncertain significance 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). 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.
Natera, Inc. RCV001083232 SCV001457982 benign Glycogen storage disease type III 2020-01-06 no assertion criteria provided clinical testing

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