Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038247 | SCV000061915 | benign | not specified | 2012-05-07 | criteria provided, single submitter | clinical testing | "Ala259Ala in Exon 05 of KCNQ4: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 42.4% (1584/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs4660468)." |
Prevention |
RCV000038247 | SCV000310613 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000038247 | SCV000714185 | benign | not specified | 2017-05-09 | 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. |
Genome- |
RCV000613298 | SCV001980914 | benign | Autosomal dominant nonsyndromic hearing loss 2A | 2021-08-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001727535 | SCV002421330 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000613298 | SCV000734029 | benign | Autosomal dominant nonsyndromic hearing loss 2A | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000038247 | SCV001958628 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001727535 | SCV001973000 | likely benign | not provided | no assertion criteria provided | clinical testing |