Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038243 | SCV000061911 | benign | not specified | 2012-05-07 | criteria provided, single submitter | clinical testing | His455Gln in Exon 10 of KCNQ4: This variant is not expected to have clinical sig nificance because it has been identified in 24.0% (1685/7018) of European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs34287852). |
Prevention |
RCV000038243 | SCV000310605 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000038243 | SCV000730553 | benign | not specified | 2017-08-03 | 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. |
ARUP Laboratories, |
RCV001001541 | SCV001158869 | benign | Autosomal dominant nonsyndromic hearing loss 2A | 2023-11-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001001541 | SCV001980915 | benign | Autosomal dominant nonsyndromic hearing loss 2A | 2021-08-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002054690 | SCV002401801 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000038243 | SCV001959094 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000038243 | SCV001972884 | benign | not specified | no assertion criteria provided | clinical testing |