Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001085006 | SCV000286035 | benign | Rhabdoid tumor predisposition syndrome 2 | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000562487 | SCV000663978 | likely benign | Hereditary cancer-predisposing syndrome | 2015-10-01 | 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. |
Gene |
RCV000732274 | SCV000721789 | likely benign | not provided | 2021-01-29 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000732274 | SCV000860203 | uncertain significance | not provided | 2018-03-27 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001808614 | SCV002056189 | likely benign | Intellectual disability, autosomal dominant 16 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003947755 | SCV004770668 | likely benign | SMARCA4-related disorder | 2023-10-11 | 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). |