Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000571257 | SCV000675094 | likely benign | Hereditary cancer-predisposing syndrome | 2015-08-14 | 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 |
RCV001697418 | SCV000716413 | likely benign | not provided | 2018-04-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000641920 | SCV000763570 | likely benign | Gastrointestinal stromal tumor; Paragangliomas 3 | 2024-01-09 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003392416 | SCV004121627 | uncertain significance | SDHC-related condition | 2023-05-10 | criteria provided, single submitter | clinical testing | The SDHC c.99G>A variant is not predicted to result in an amino acid change (p.=). To our knowledge, this variant has not been reported in the literature. This variant is predicted to interfere with splicing. This variant is reported in 0.011% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-161298207-G-A). In ClinVar, this variant is interpreted as likely benign (https://www.ncbi.nlm.nih.gov/clinvar/variation/486428/). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Ce |
RCV001697418 | SCV004125121 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | SDHC: BP4, BP7 |