Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000593828 | SCV000708551 | uncertain significance | not provided | 2017-05-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001078501 | SCV001017412 | likely benign | Gorlin syndrome | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001021684 | SCV001183331 | likely benign | Hereditary cancer-predisposing syndrome | 2018-06-26 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Prevention |
RCV004553341 | SCV004708439 | likely benign | PTCH1-related disorder | 2022-04-10 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |