Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000215670 | SCV000269974 | likely benign | not specified | 2015-05-27 | criteria provided, single submitter | clinical testing | p.Cys17Cys in exon 2 of ACTG1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 5/8644 East Asian c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs201570725). |
Labcorp Genetics |
RCV003765361 | SCV004581614 | benign | Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 | 2023-12-09 | criteria provided, single submitter | clinical testing |