Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039324 | SCV000063008 | benign | not specified | 2012-05-07 | criteria provided, single submitter | clinical testing | "Asn266Asn in Exon 02 of GJB3: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 10.1% (712/7020) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs35983826)." |
Eurofins Ntd Llc |
RCV000039324 | SCV000227518 | benign | not specified | 2015-04-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000039324 | SCV000314228 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000270487 | SCV000357320 | benign | Erythrokeratodermia variabilis et progressiva 1 | 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Gene |
RCV001636628 | SCV001848192 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001636628 | SCV002473354 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing |