Submissions for variant NM_000152.5(GAA):c.1075+13C>T

gnomAD frequency: 0.01065  dbSNP: rs41292402

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078154	SCV000109992	benign	not specified	2013-09-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000078154	SCV000302657	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000078154	SCV000725272	benign	not specified	2017-12-05	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.
Illumina Laboratory Services, Illumina	RCV001128337	SCV001287766	likely benign	Glycogen storage disease, type II	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001128337	SCV001473881	benign	Glycogen storage disease, type II	2023-10-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001128337	SCV001723049	benign	Glycogen storage disease, type II	2024-02-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000675225	SCV005214226	likely benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000675225	SCV000800871	benign	not provided	2015-12-16	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000675225	SCV001930810	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000078154	SCV001974690	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000675225	SCV002036953	likely benign	not provided		no assertion criteria provided	clinical testing