Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000163280 | SCV000213808 | likely benign | Hereditary cancer-predisposing syndrome | 2018-09-29 | 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 |
RCV000034606 | SCV000243523 | benign | not provided | 2020-01-13 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 22703879) |
Labcorp Genetics |
RCV001083195 | SCV000284693 | benign | Tuberous sclerosis 1 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000317696 | SCV000478215 | likely benign | Isolated focal cortical dysplasia type II | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Laboratory Services, |
RCV001083195 | SCV000478216 | likely benign | Tuberous sclerosis 1 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Fulgent Genetics, |
RCV000515239 | SCV000611436 | uncertain significance | Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II | 2017-05-23 | criteria provided, single submitter | clinical testing | |
Division of Genomic Medicine, |
RCV001083195 | SCV001430710 | likely benign | Tuberous sclerosis 1 | 2020-07-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001083195 | SCV002040066 | benign | Tuberous sclerosis 1 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000163280 | SCV002530956 | benign | Hereditary cancer-predisposing syndrome | 2021-02-09 | criteria provided, single submitter | curation | |
Color Diagnostics, |
RCV001083195 | SCV004360818 | likely benign | Tuberous sclerosis 1 | 2022-08-10 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV001083195 | SCV005404765 | likely benign | Tuberous sclerosis 1 | 2024-08-12 | criteria provided, single submitter | clinical testing | This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance. |
Biesecker Lab/Clinical Genomics Section, |
RCV000034606 | SCV000043510 | variant of unknown significance | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission to Uncertain significance. |
Prevention |
RCV003934882 | SCV004748146 | likely benign | TSC1-related disorder | 2020-10-12 | no assertion criteria provided | 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). |