Total submissions: 14
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000155580 | SCV000169114 | benign | not specified | 2012-03-08 | 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, |
RCV000155580 | SCV000205286 | benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | 1600-14C>T in intron 15 of TSC2: This variant is not expected to have clinical s ignificance because it has been identified in 6.9% (597/8600) of European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs45517185). |
Preventiongenetics, |
RCV000155580 | SCV000305154 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000043407 | SCV000395585 | benign | Tuberous sclerosis syndrome | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
ARUP Laboratories, |
RCV001811311 | SCV001158900 | benign | not provided | 2023-11-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001797610 | SCV002041356 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001797610 | SCV002404030 | benign | Tuberous sclerosis 2 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV001797610 | SCV004016093 | benign | Tuberous sclerosis 2 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001797610 | SCV004360867 | benign | Tuberous sclerosis 2 | 2019-03-29 | criteria provided, single submitter | clinical testing | |
Tuberous sclerosis database |
RCV000043407 | SCV000067213 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation | ||
Tuberous sclerosis database |
RCV000055598 | SCV000083823 | not provided | Lymphangiomyomatosis; Tuberous sclerosis syndrome | no assertion provided | curation | ||
Clinical Genetics, |
RCV000155580 | SCV001918578 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000155580 | SCV001931605 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000155580 | SCV001969264 | benign | not specified | no assertion criteria provided | clinical testing |