Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001086896 | SCV000544394 | likely benign | Tuberous sclerosis 2 | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000572627 | SCV000675538 | likely benign | Hereditary cancer-predisposing syndrome | 2022-11-16 | 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. |
Eurofins Ntd Llc |
RCV000593021 | SCV000701639 | uncertain significance | not provided | 2016-10-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000593021 | SCV000976963 | likely benign | not provided | 2021-06-09 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 30842500) |
Ce |
RCV000593021 | SCV001150718 | uncertain significance | not provided | 2016-06-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001086896 | SCV002039834 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000572627 | SCV002533514 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-09-30 | criteria provided, single submitter | curation |