Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000176158 | SCV000227769 | benign | not specified | 2015-04-23 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001520755 | SCV001729937 | benign | Tuberous sclerosis 1 | 2018-02-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001668337 | SCV001885441 | benign | not provided | 2019-08-06 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001520755 | SCV002040370 | benign | Tuberous sclerosis 1 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Molecular Genetics, |
RCV002221210 | SCV002498689 | benign | Lymphangiomyomatosis | 2023-03-30 | criteria provided, single submitter | clinical testing | Population allele frequency is 4.7% (rs118203716, 4,915/103,824 alleles in gnomAD v2.1). Based on classification scheme RMH ACMG Guidelines v1.1.1, this variant is classified as Benign. Following criteria are met: BA1. |
Sema4, |
RCV002256093 | SCV002528885 | benign | Hereditary cancer-predisposing syndrome | 2020-05-20 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002256093 | SCV002744646 | benign | Hereditary cancer-predisposing syndrome | 2020-07-06 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Fulgent Genetics, |
RCV002478574 | SCV002794654 | benign | Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II | 2021-09-28 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003995682 | SCV004815913 | benign | Tuberous sclerosis syndrome | 2024-02-05 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000176158 | SCV001926219 | benign | not specified | no assertion criteria provided | clinical testing | ||
Diagnostic Laboratory, |
RCV000176158 | SCV001963009 | benign | not specified | no assertion criteria provided | clinical testing |