Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000607464 | SCV000731845 | benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | p.Arg1030Arg in exon 20 of ADCY1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 31.47% (3265/10374 ) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs2293106). |
Genome- |
RCV001549075 | SCV001769154 | benign | Autosomal recessive nonsyndromic hearing loss 44 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001653948 | SCV001865178 | benign | not provided | 2018-11-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001653948 | SCV002405268 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing |