Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000223393 | SCV000269229 | benign | not specified | 2015-08-11 | criteria provided, single submitter | clinical testing | p.Ser957Ser in exon 19 of LOXHD1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1.53% (43/2804) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; rs181591912). |
| Gene |
RCV000840099 | SCV000982015 | likely benign | not provided | 2018-03-20 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
| Labcorp Genetics |
RCV000840099 | SCV001024825 | benign | not provided | 2024-10-04 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV001124208 | SCV001283135 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 77 | 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, 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. |
| ARUP Laboratories, |
RCV001124208 | SCV003800234 | benign | Autosomal recessive nonsyndromic hearing loss 77 | 2022-07-15 | criteria provided, single submitter | clinical testing |