Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Preventiongenetics, |
RCV000119989 | SCV000310066 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000470544 | SCV000429961 | benign | Neuroblastoma, susceptibility to, 3 | 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. |
Gene |
RCV000119989 | SCV000518943 | benign | not specified | 2017-09-27 | 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. |
Invitae | RCV000470544 | SCV000554753 | benign | Neuroblastoma, susceptibility to, 3 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000566776 | SCV000664984 | benign | Hereditary cancer-predisposing syndrome | 2016-12-14 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000589563 | SCV000698284 | benign | not provided | 2016-08-24 | criteria provided, single submitter | clinical testing | Variant summary: The ALK c.1427T>C (p.Val476Ala) variant involves the alteration of a non-conserved nucleotide. 2/3 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 3594/122674 control chromosomes (67 homozygotes) at a frequency of 0.0292972, which is approximately 70313 times the estimated maximal expected allele frequency of a pathogenic ALK variant (0.0000004), suggesting this variant is likely a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Taken together, this variant is classified as benign. |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000470544 | SCV000744258 | benign | Neuroblastoma, susceptibility to, 3 | 2015-09-21 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000470544 | SCV000883390 | benign | Neuroblastoma, susceptibility to, 3 | 2023-11-07 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV000470544 | SCV004016310 | benign | Neuroblastoma, susceptibility to, 3 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000119989 | SCV000084119 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Genome Diagnostics Laboratory, |
RCV000470544 | SCV000745627 | benign | Neuroblastoma, susceptibility to, 3 | 2016-01-15 | no assertion criteria provided | clinical testing |