Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000116229 | SCV000150141 | benign | not specified | 2013-02-20 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000116229 | SCV000205039 | benign | not specified | 2012-05-07 | criteria provided, single submitter | clinical testing | "Gly342Gly in Exon 06 of ACTG1: 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 8.3% (311/3738) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs1139406)." |
Gene |
RCV000116229 | SCV000516199 | benign | not specified | 2015-11-13 | 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 Inc | RCV000710406 | SCV000840618 | benign | not provided | 2018-05-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001512127 | SCV001719477 | benign | Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002253214 | SCV002524425 | benign | Baraitser-winter syndrome 2 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002253213 | SCV002524426 | benign | Autosomal dominant nonsyndromic hearing loss 20 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000116229 | SCV001959216 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000710406 | SCV001973354 | likely benign | not provided | no assertion criteria provided | clinical testing |