ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3619G>A (p.Ala1207Thr)

gnomAD frequency: 0.00940  dbSNP: rs11807956
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247331 SCV000305397 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000247331 SCV000528007 benign not specified 2017-01-04 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000528226 SCV000626731 benign Glycogen storage disease type III 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000528226 SCV001254963 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.
Genome-Nilou Lab RCV000528226 SCV002055546 benign Glycogen storage disease type III 2021-07-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003114419 SCV003799858 benign not provided 2023-09-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV000528226 SCV002094543 likely benign Glycogen storage disease type III 2019-12-02 no assertion criteria provided clinical testing

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