Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000221384 | SCV000270746 | benign | not specified | 2017-04-20 | criteria provided, single submitter | clinical testing | p.Ser264Ser in exon 02 of POU4F3: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 0.6% (115/18864) o f East Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnom ad.broadinstitute.org; dbSNP rs149975083). |
Illumina Laboratory Services, |
RCV000404483 | SCV000453476 | benign | Autosomal dominant nonsyndromic hearing loss 15 | 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. |
Invitae | RCV000895719 | SCV001039775 | benign | not provided | 2023-08-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000895719 | SCV001844798 | benign | not provided | 2019-07-17 | criteria provided, single submitter | clinical testing |