Submissions for variant NM_000520.6(HEXA):c.1216C>T (p.Leu406=)

gnomAD frequency: 0.00019  dbSNP: rs140482769

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000342855	SCV000393833	uncertain significance	Tay-Sachs disease	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000342855	SCV001607800	likely benign	Tay-Sachs disease	2025-01-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003165854	SCV003875758	likely benign	Inborn genetic diseases	2023-02-05	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.
CeGaT Center for Human Genetics Tuebingen	RCV004546480	SCV005041512	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	HEXA: BP4, BP7
Natera, Inc.	RCV000342855	SCV001460521	likely benign	Tay-Sachs disease	2020-09-16	no assertion criteria provided	clinical testing