Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000250930 | SCV000304642 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Laboratory for Molecular 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, |
RCV000250930 | SCV000859033 | benign | not specified | 2017-12-30 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000250930 | SCV001156690 | benign | not specified | 2019-02-11 | criteria provided, single submitter | clinical testing | |
Broad Institute Rare Disease Group, |
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, |
RCV000416442 | SCV000494214 | pathogenic | Tay-Sachs disease | 2011-03-22 | no assertion criteria provided | research | |
Mayo Clinic Genetic Testing Laboratories, |
RCV000675468 | SCV000801157 | benign | not provided | 2017-04-05 | no assertion criteria provided | clinical testing |