Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000280841 | SCV000363838 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 12 | 2018-01-12 | 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Illumina Laboratory Services, |
RCV000331450 | SCV000363839 | uncertain significance | Usher syndrome type 1D | 2018-01-12 | 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Laboratory for Molecular Medicine, |
RCV000600911 | SCV000710990 | likely benign | not specified | 2017-01-31 | criteria provided, single submitter | clinical testing | p.Thr2143Thr in exon 48 of CDH23: 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 0.2% (24/9792) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org; dbSNP rs142788731). |
| Eurofins Ntd Llc |
RCV000730499 | SCV000858241 | uncertain significance | not provided | 2017-11-30 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000730499 | SCV001042453 | likely benign | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000730499 | SCV001820451 | likely benign | not provided | 2021-10-02 | criteria provided, single submitter | clinical testing | |
| Natera, |
RCV001828306 | SCV002095019 | likely benign | Usher syndrome type 1 | 2020-02-27 | no assertion criteria provided | clinical testing |