Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000249360 | SCV000310080 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000611999 | SCV000429965 | benign | Neuroblastoma, susceptibility to, 3 | 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. |
Gene |
RCV000249360 | SCV000518932 | benign | not specified | 2016-03-02 | 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, |
RCV000249360 | SCV000538275 | benign | not specified | 2016-03-29 | 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: Frequency |
Ambry Genetics | RCV000571090 | SCV000664936 | benign | Hereditary cancer-predisposing syndrome | 2016-12-08 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000588673 | SCV000698301 | benign | not provided | 2016-04-27 | criteria provided, single submitter | clinical testing | Variant summary: The variant of interest causes a synonymous change involving a conserved nucleotide with 5/5 in silico programs via Alamut predicting no significant effect on splicing. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 89037/121392 (34225 homozygotes) indicating that the variant of interest is the major allele (allele most commonly observed in the general population). Therefore, the variant of interest is classified as Benign. |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000611999 | SCV000744260 | benign | Neuroblastoma, susceptibility to, 3 | 2015-09-21 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000611999 | SCV001472436 | benign | Neuroblastoma, susceptibility to, 3 | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000611999 | SCV001733364 | benign | Neuroblastoma, susceptibility to, 3 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV000611999 | SCV004015467 | benign | Neuroblastoma, susceptibility to, 3 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000588673 | SCV005242270 | benign | not provided | criteria provided, single submitter | not provided | ||
Diagnostic Laboratory, |
RCV000611999 | SCV000734192 | benign | Neuroblastoma, susceptibility to, 3 | no assertion criteria provided | clinical testing |