Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000218888 | SCV000269623 | benign | not specified | 2014-12-08 | criteria provided, single submitter | clinical testing | c.1917+13GT[12] in intron 15 of PCDH15: This variant is not expected to have cli nical significance because it is not located within the splice consensus sequenc e. It has been detected in 17.5% (8259/47276) of chromosomes across several dive rse populations by the Exome Aggregate Consortium (http://exac.broadinstitute.or g/variant/10-55892600-T-TAC). |
Gene |
RCV001712322 | SCV001940179 | benign | not provided | 2019-08-13 | criteria provided, single submitter | clinical testing |