Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000251968 | SCV000303692 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000287873 | SCV000391478 | benign | Bartter disease 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. |
Athena Diagnostics Inc | RCV000251968 | SCV000615281 | benign | not specified | 2017-07-26 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000251968 | SCV000711853 | benign | not specified | 2016-03-21 | criteria provided, single submitter | clinical testing | p.Tyr538Tyr in exon 13 of SLC12A1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wi thin the splice consensus sequence, and has been identified in 83.66% (1106/1322 ) of African chromosomes by the 1000 Genomes Project (Phase 3; dbSNP rs6493311). |
Invitae | RCV001512477 | SCV001719904 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001512477 | SCV001912563 | benign | not provided | 2018-11-12 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000251968 | SCV001978291 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000251968 | SCV001979362 | benign | not specified | no assertion criteria provided | clinical testing |