Submissions for variant NM_000027.4(AGA):c.281+13T>G

gnomAD frequency: 0.19395  dbSNP: rs34241758

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000077943	SCV000109772	benign	not specified	2012-12-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000077943	SCV000301559	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000355014	SCV000448738	likely benign	Aspartylglucosaminuria	2016-06-14	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000077943	SCV000538241	benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000355014	SCV000745000	benign	Aspartylglucosaminuria	2017-05-31	criteria provided, single submitter	clinical testing
Invitae	RCV000355014	SCV001731967	benign	Aspartylglucosaminuria	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000355014	SCV001762525	benign	Aspartylglucosaminuria	2021-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000675819	SCV001892054	benign	not provided	2018-11-27	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000355014	SCV000734330	benign	Aspartylglucosaminuria		no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675819	SCV000801541	benign	not provided	2015-10-22	no assertion criteria provided	clinical testing