Submissions for variant NM_000520.6(HEXA):c.759G>A (p.Val253=)

gnomAD frequency: 0.00412  dbSNP: rs117513345

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247584	SCV000304644	likely benign	not specified	2016-04-05	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000247584	SCV000341516	benign	not specified	2016-05-16	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000475714	SCV000557160	benign	Tay-Sachs disease	2024-02-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001092608	SCV000603955	benign	not provided	2023-09-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001092608	SCV001249189	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	HEXA: BP4, BP7, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000247584	SCV001426926	benign	not specified	2020-07-19	criteria provided, single submitter	clinical testing
GeneDx	RCV001092608	SCV001938234	benign	not provided	2021-04-30	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 19858779)
Ambry Genetics	RCV002392763	SCV002673700	likely benign	Inborn genetic diseases	2016-04-23	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics	RCV001092608	SCV005211008	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000475714	SCV000733467	likely benign	Tay-Sachs disease		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000247584	SCV001918987	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000475714	SCV002086286	benign	Tay-Sachs disease	2017-05-25	no assertion criteria provided	clinical testing