Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000149842 | SCV000616528 | benign | RASopathy | 2017-04-18 | reviewed by expert panel | curation | The filtering allele frequency of the c.195A>C (p.Arg65=) variant in the SOS1 gene is 10.978% (1192/10346) of African chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581) |
Eurofins Ntd Llc |
RCV000038526 | SCV000058316 | benign | not specified | 2013-03-18 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000038526 | SCV000062204 | benign | not specified | 2007-09-05 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001705629 | SCV000206743 | benign | not provided | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV000038526 | SCV000311186 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV001094748 | SCV000430453 | benign | Noonan syndrome 4 | 2018-01-13 | 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. |
Illumina Laboratory Services, |
RCV000294370 | SCV000430454 | benign | Fibromatosis, gingival, 1 | 2018-01-13 | 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. |
Invitae | RCV000149842 | SCV000563105 | benign | RASopathy | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001705629 | SCV001850027 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001813279 | SCV002060637 | benign | Noonan syndrome and Noonan-related syndrome | 2021-07-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002415450 | SCV002720095 | benign | Cardiovascular phenotype | 2017-07-27 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Baylor Genetics | RCV000149842 | SCV000196687 | benign | RASopathy | no assertion criteria provided | clinical testing | Variant classified using ACMG guidelines | |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV000038526 | SCV000207678 | benign | not specified | 2015-01-15 | no assertion criteria provided | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000038526 | SCV001809332 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000038526 | SCV001923082 | benign | not specified | no assertion criteria provided | clinical testing |