Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000338756 | SCV000481298 | uncertain significance | Gorlin syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000392544 | SCV000481299 | uncertain significance | Holoprosencephaly sequence | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000338756 | SCV000749379 | likely benign | Gorlin syndrome | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001015611 | SCV001176461 | likely benign | Hereditary cancer-predisposing syndrome | 2017-10-04 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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 |
RCV003957878 | SCV004776770 | likely benign | PTCH1-related condition | 2019-09-05 | 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). |