Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000204245 | SCV000261688 | benign | Rhabdoid tumor predisposition syndrome 2 | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000569683 | SCV000663945 | likely benign | Hereditary cancer-predisposing syndrome | 2019-08-27 | 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. |
Baylor Genetics | RCV001292771 | SCV001481418 | uncertain significance | Intellectual disability, autosomal dominant 16 | 2018-12-21 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Genome- |
RCV001292771 | SCV002056199 | likely benign | Intellectual disability, autosomal dominant 16 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000569683 | SCV002532894 | benign | Hereditary cancer-predisposing syndrome | 2020-12-09 | criteria provided, single submitter | curation |