Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000166110 | SCV000216878 | likely benign | Hereditary cancer-predisposing syndrome | 2014-10-02 | 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. |
Gene |
RCV000422391 | SCV000514200 | benign | not specified | 2015-05-05 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001088731 | SCV000562236 | benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000166110 | SCV000686107 | likely benign | Hereditary cancer-predisposing syndrome | 2017-01-03 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000587597 | SCV000697284 | benign | not provided | 2017-06-16 | criteria provided, single submitter | clinical testing | Variant summary: The c.1209C>T (p.Ser403=) in PMS2 gene is a synonymous change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant do not affect a normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in control population dataset of ExAC at a frequency of 9.257e-05 (11/118826 chrs tested), predominantly in individuals of Latino descent (0.0008666; 10/11540 chrs tested). The later frequency exceeds the estimated maximal expected allele frequency of a pathogenic variant in PMS2 gene (0.00011). The variant was cited as Likely Benign/Benign by a reputable database/clinical laboratories. Taking together, the variant was classified as Benign. |
Prevention |
RCV000587597 | SCV000806166 | likely benign | not provided | 2017-10-23 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000166110 | SCV002529769 | likely benign | Hereditary cancer-predisposing syndrome | 2020-11-28 | criteria provided, single submitter | curation |