Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000164851 | SCV000215534 | benign | Hereditary cancer-predisposing syndrome | 2018-06-01 | criteria provided, single submitter | clinical testing | This alteration is classified as 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 |
RCV001703956 | SCV000243585 | likely benign | not provided | 2021-04-29 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 26703369) |
Invitae | RCV000475134 | SCV000544417 | benign | Tuberous sclerosis 2 | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000475134 | SCV002039384 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001703956 | SCV002497860 | uncertain significance | not provided | 2022-01-01 | criteria provided, single submitter | clinical testing | |
Tuberous sclerosis database |
RCV000055045 | SCV000083263 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |