Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036172 | SCV000059824 | likely benign | not specified | 2016-03-31 | criteria provided, single submitter | clinical testing | p.Asp1661Asp in exon 36 of MYO7A: 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. It has been identified in 5/66656 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs111033331) |
Counsyl | RCV000664868 | SCV000788890 | uncertain significance | Deafness, autosomal recessive 2; Usher syndrome type 1 | 2016-12-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000917460 | SCV001062738 | likely benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing |