Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189909 | SCV000243568 | likely benign | not specified | 2013-11-04 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Laboratory for Molecular Medicine, |
RCV000189909 | SCV000540608 | uncertain significance | not specified | 2016-06-23 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Weakly associated with epilepsy and autism |
Ambry Genetics | RCV000562671 | SCV000675596 | likely benign | Hereditary cancer-predisposing syndrome | 2021-10-27 | 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. |
Invitae | RCV000644061 | SCV000765751 | likely benign | Tuberous sclerosis 2 | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000644061 | SCV002039669 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000562671 | SCV002533314 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-08-06 | criteria provided, single submitter | curation | |
Revvity Omics, |
RCV000644061 | SCV003821632 | uncertain significance | Tuberous sclerosis 2 | 2021-04-03 | criteria provided, single submitter | clinical testing | |
Tuberous sclerosis database |
RCV000055315 | SCV000083535 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation | ||
Tuberous sclerosis database |
RCV000055380 | SCV000083601 | not provided | Autism spectrum disorder | no assertion provided | curation |