Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000456358 | SCV000552363 | likely benign | Tuberous sclerosis 1 | 2023-10-04 | criteria provided, single submitter | clinical testing | |
Gharavi Laboratory, |
RCV000782214 | SCV000920700 | benign | not provided | 2018-09-16 | criteria provided, single submitter | research | |
Gene |
RCV000782214 | SCV001772985 | likely benign | not provided | 2021-04-06 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 21520333, 22161988, 21811971) |
Genome- |
RCV000456358 | SCV002040167 | likely benign | Tuberous sclerosis 1 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002371892 | SCV002624589 | likely benign | Hereditary cancer-predisposing syndrome | 2022-11-22 | 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. |
Tuberous sclerosis database |
RCV000054879 | SCV000083094 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |