Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000116992 | SCV000302362 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000613326 | SCV000382127 | benign | Xeroderma pigmentosum, group G | 2018-03-06 | 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. |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000613326 | SCV000745536 | benign | Xeroderma pigmentosum, group G | 2015-09-21 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001657728 | SCV001876132 | benign | Cerebrooculofacioskeletal syndrome 3 | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000613326 | SCV001876134 | benign | Xeroderma pigmentosum, group G | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001719862 | SCV001949486 | benign | not provided | 2018-11-10 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 16738949, 21390047, 24728327, 22815677, 14729591, 27153395, 24802942) |
Labcorp Genetics |
RCV001719862 | SCV002444926 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001719862 | SCV005233367 | benign | not provided | criteria provided, single submitter | not provided | ||
ITMI | RCV000116992 | SCV000085012 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Genetic Services Laboratory, |
RCV000116992 | SCV000151113 | likely benign | not specified | no assertion criteria provided | clinical testing | Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. |