Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037062 | SCV000060718 | benign | not specified | 2012-05-07 | criteria provided, single submitter | clinical testing | "Tyr211Tyr in Exon 03 of CLDN14: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 6.0% (225/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs61745291)." |
Gene |
RCV000037062 | SCV000717175 | benign | not specified | 2017-12-18 | 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. |
Athena Diagnostics | RCV000711209 | SCV000841541 | benign | not provided | 2018-05-24 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000711209 | SCV001109949 | benign | not provided | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001138768 | SCV001298844 | benign | Autosomal recessive nonsyndromic hearing loss 29 | 2017-07-28 | 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, |
RCV000711209 | SCV005310080 | benign | not provided | criteria provided, single submitter | not provided |