Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000204570 | SCV000260578 | likely benign | Gorlin syndrome | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000564991 | SCV000676626 | likely benign | Hereditary cancer-predisposing syndrome | 2018-07-22 | 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. |
CSER _CC_NCGL, |
RCV000204570 | SCV000700137 | likely benign | Gorlin syndrome | 2016-10-01 | criteria provided, single submitter | research | Found in patient having exome sequencing due to suspicion for hereditary colon cancer and/or polyps. Patient is a 56 year old male with a history of colon polyps. This interpretation considers GERP score and allele frequency data, in addition to published reports of the variant in the literature, available at the time of review. |
Ce |
RCV003430764 | SCV004160187 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | PTCH1: BP4, BS1 |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003430764 | SCV004219225 | benign | not provided | 2022-10-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004547481 | SCV004730488 | likely benign | PTCH1-related disorder | 2022-08-18 | 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). |