Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151621 | SCV000199833 | likely benign | not specified | 2017-12-14 | criteria provided, single submitter | clinical testing | p.Ser1799Ser in Exon 33 of PCDH15: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wi thin the splice consensus sequence, and has been identified in 15/212732 all chr omosomes in multiple populations by the Genome Aggregation Database (gnomAD, htt p://gnomad.broadinstitute.org; dbSNP rs367881384). |
Invitae | RCV000932824 | SCV001078511 | likely benign | not provided | 2024-01-13 | criteria provided, single submitter | clinical testing |