Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150660 | SCV000198006 | benign | not specified | 2013-08-16 | criteria provided, single submitter | clinical testing | Arg6Gly in exon 4 of ESRRB: This variant is not expected to have clinical signif icance because it has been identified in 1.7% (10/572) of Asian chromosomes by t he 1000 Genomes Project (dbSNP rs143477571) |
Eurofins Ntd Llc |
RCV000150660 | SCV000338972 | benign | not specified | 2016-02-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000150660 | SCV000730665 | benign | not specified | 2017-10-03 | 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 |
RCV000885398 | SCV001028838 | benign | not provided | 2023-12-12 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001115577 | SCV001273564 | benign | Autosomal recessive nonsyndromic hearing loss 35 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. |
Breakthrough Genomics, |
RCV000885398 | SCV005295048 | benign | not provided | criteria provided, single submitter | not provided |