Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002316871 | SCV000850659 | uncertain significance | Inborn genetic diseases | 2017-05-10 | criteria provided, single submitter | clinical testing | The p.V273F variant (also known as c.817G>T), located in coding exon 2 of the PTCHD1 gene, results from a G to T substitution at nucleotide position 817. The valine at codon 273 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV000916130 | SCV001061363 | benign | not provided | 2018-04-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000916130 | SCV001753396 | benign | not provided | 2021-02-03 | criteria provided, single submitter | clinical testing |