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

gnomAD frequency: 0.00940  dbSNP: rs11807956

Total submissions: 7

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.
Invitae	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