Submissions for variant NM_000520.6(HEXA):c.9C>T (p.Ser3=)

gnomAD frequency: 0.03048  dbSNP: rs1800428

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079053	SCV000110922	benign	not specified	2012-08-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000079053	SCV000304646	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000313948	SCV000393841	likely benign	Tay-Sachs disease	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000079053	SCV000513235	benign	not specified	2015-07-15	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000313948	SCV000557159	benign	Tay-Sachs disease	2025-02-04	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000675469	SCV000603954	benign	not provided	2021-07-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000313948	SCV001737379	benign	Tay-Sachs disease	2021-06-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000675469	SCV005211014	likely benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000079053	SCV000151388	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Mayo Clinic Laboratories, Mayo Clinic	RCV000675469	SCV000801158	benign	not provided	2015-12-16	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000313948	SCV001190676	benign	Tay-Sachs disease	2019-05-20	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000079053	SCV002034642	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000079053	SCV002037432	benign	not specified		no assertion criteria provided	clinical testing