Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000214031 | SCV000268783 | benign | not specified | 2015-07-01 | criteria provided, single submitter | clinical testing | c.124-8C>T in intron 2 of ACTG1: This variant is not expected to have clinical significance because it has been identified in 0.6% (105/16508) of South Asian c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs201279208). In addition, a C>T change at this position does not di verge from the splice consensus sequence and is therefore unlikely to impact spl icing. |
ARUP Laboratories, |
RCV000214031 | SCV001159898 | benign | not specified | 2018-09-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001668376 | SCV001884383 | benign | not provided | 2018-10-02 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002054366 | SCV002360529 | benign | Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002253293 | SCV002524501 | benign | Baraitser-winter syndrome 2 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002253292 | SCV002524502 | benign | Autosomal dominant nonsyndromic hearing loss 20 | 2021-12-05 | criteria provided, single submitter | clinical testing |