Total submissions: 14
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079493 | SCV000111375 | benign | not specified | 2014-07-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000162951 | SCV000213438 | benign | Hereditary cancer-predisposing syndrome | 2014-11-19 | 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. |
Prevention |
RCV000079493 | SCV000306716 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000389579 | SCV000466460 | benign | Papillary renal cell carcinoma type 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. |
Gene |
RCV000079493 | SCV000513601 | benign | not specified | 2016-01-19 | 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. |
Labcorp Genetics |
RCV001507220 | SCV000623448 | benign | Renal cell carcinoma | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000586311 | SCV000697661 | benign | not provided | 2016-08-19 | criteria provided, single submitter | clinical testing | Variant summary: The c.4071G>A (p.Ala1357=) in MET gene is a synonymous change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of ExAC at frequency of 0.4245 (51253/120730chrs tested) including numerous homozygous occurrences. The variant of interest has not, to our knowledge, been reported in affected individuals via publication but is cited as Benign by reputable databases/clinical laboratories. Taking together, based on the prevalence of this variant in general population the variant was classified as Benign. |
Genome- |
RCV001775571 | SCV002014200 | benign | Autosomal recessive nonsyndromic hearing loss 97 | 2021-09-05 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV000389579 | SCV004015832 | benign | Papillary renal cell carcinoma type 1 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000586311 | SCV005273295 | benign | not provided | criteria provided, single submitter | not provided | ||
Diagnostic Laboratory, |
RCV000079493 | SCV001743666 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000079493 | SCV001921318 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000079493 | SCV001930928 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000079493 | SCV001959697 | benign | not specified | no assertion criteria provided | clinical testing |