Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039748 | SCV000063437 | uncertain significance | not specified | 2011-11-15 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The Ser1757_Pro1760 del variant in PCDH15 has not been reported in the literature nor previously ide ntified by our laboratory. This variant is a 4 codon in-frame deletion in a prol ine-rich domain and is located in the last exon of the gene. The region covered by the deletion is not conserved across mammals or distant species; however, thi s information is insufficient to rule out pathogenicity. In summary, the clinica l significance of this variant cannot be determined with certainty at this time. |
Invitae | RCV001243117 | SCV001416253 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing |