Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000600884 | SCV000712410 | likely benign | not specified | 2016-08-23 | criteria provided, single submitter | clinical testing | p.Asn115Asn in exon 3 of ACTG1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 21/66260 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs149057480). |
Gene |
RCV001722546 | SCV000728871 | benign | not provided | 2020-03-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000952118 | SCV001098593 | benign | Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002253519 | SCV002524488 | benign | Baraitser-winter syndrome 2 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002253518 | SCV002524489 | benign | Autosomal dominant nonsyndromic hearing loss 20 | 2021-12-05 | criteria provided, single submitter | clinical testing |