ClinVar Miner

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

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Total submissions: 7
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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

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