Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000609258 | SCV000711023 | likely benign | not specified | 2017-01-25 | criteria provided, single submitter | clinical testing | p.Ser578Ser in exon 17 of EYA1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.1% (11/9788) of Af rican chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadin stitute.org; dbSNP rs150410083). |
Invitae | RCV003594001 | SCV001052217 | benign | Melnick-Fraser syndrome | 2023-09-29 | criteria provided, single submitter | clinical testing |