Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150134 | SCV000196996 | likely benign | not specified | 2014-01-09 | criteria provided, single submitter | clinical testing | Thr303Thr in Exon 5 of ACTG1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 0.04% (1/2178) of ch romosomes by the 1000 Genomes Project (dbSNP rs187127467). |
Gene |
RCV001719927 | SCV000516419 | benign | not provided | 2018-12-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000878537 | SCV001021458 | benign | Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002253243 | SCV002524440 | benign | Baraitser-winter syndrome 2 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002253242 | SCV002524441 | benign | Autosomal dominant nonsyndromic hearing loss 20 | 2021-12-05 | criteria provided, single submitter | clinical testing |