Submissions for variant NM_000027.4(AGA):c.623-7C>T

gnomAD frequency: 0.00188  dbSNP: rs201125635

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000404784	SCV000448733	uncertain significance	Aspartylglucosaminuria	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000404784	SCV001101856	benign	Aspartylglucosaminuria	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001567646	SCV001791370	likely benign	not provided	2020-11-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001567646	SCV004042212	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	AGA: BP4, BS2
Natera, Inc.	RCV000404784	SCV001461148	likely benign	Aspartylglucosaminuria	2020-04-16	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001567646	SCV001797420	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001567646	SCV001975732	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003902343	SCV004723140	likely benign	AGA-related disorder	2020-11-18	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).