Submissions for variant NM_000520.6(HEXA):c.672+30T>G (rs117160567)

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics,PreventionGenetics	RCV000250930	SCV000304642	benign	not specified		criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine	RCV000250930	SCV000539284	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. OB 12/23/15: 4.6% freq in South Asian chr
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	RCV000250930	SCV000859033	benign	not specified	2017-12-30	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories	RCV000250930	SCV001156690	benign	not specified	2019-02-11	criteria provided, single submitter	clinical testing
Broad Institute Rare Disease Group,Broad Institute	RCV000416442	SCV001435134	benign	Tay-Sachs disease		criteria provided, single submitter	research	The c.672+30T>G variant in HEXA has been identified in at least 1 Tay-Sachs disease carrier (PMID: 7717398), and has been identified in >4% of South Asian chromosomes and 43 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for Tay-Sachs disease.
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	RCV000416442	SCV000494214	pathogenic	Tay-Sachs disease	2011-03-22	no assertion criteria provided	research
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic	RCV000675468	SCV000801157	benign	not provided	2017-04-05	no assertion criteria provided	clinical testing