Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000862785 | SCV001003337 | likely benign | Gorlin syndrome | 2023-12-24 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000862785 | SCV001482904 | uncertain significance | Gorlin syndrome | 2019-03-19 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
St. |
RCV000862785 | SCV003843121 | uncertain significance | Gorlin syndrome | 2022-10-24 | criteria provided, single submitter | clinical testing | The PTCH2 c.2902G>A (p.Val968Ile) missense change has a maximum subpopulation frequency of 0.073% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL predicts a benign effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with nevoid basal cell carcinoma syndrome. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance. |