Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155387 | SCV000205074 | benign | not specified | 2012-05-07 | criteria provided, single submitter | clinical testing | Thr8Ile in Exon 01 of SLC17A8: This variant is not expected to have clinical sig nificance because it has been identified in 1.5% (56/3738) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs45610843). |
Illumina Laboratory Services, |
RCV000297494 | SCV000375105 | benign | Autosomal dominant nonsyndromic hearing loss 25 | 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 |
RCV000948401 | SCV000723278 | benign | not provided | 2018-11-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000948401 | SCV001094606 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003952783 | SCV004771999 | benign | SLC17A8-related condition | 2019-07-25 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |