Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000455798 | SCV000539692 | uncertain significance | not specified | 2016-10-13 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Not reported in affected patients and not in ExAC but Val is seen in 14 species (including >10 mammals). |
Invitae | RCV000699064 | SCV000827759 | benign | Hereditary nonpolyposis colorectal neoplasms | 2022-08-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001014241 | SCV001174927 | likely benign | Hereditary cancer-predisposing syndrome | 2023-09-11 | 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. |