Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Prevention |
RCV000247163 | SCV000316671 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
| Illumina Laboratory Services, |
RCV000313239 | SCV000399142 | uncertain significance | Primary ciliary dyskinesia 13 | 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, |
RCV000247163 | SCV000711292 | likely benign | not specified | 2016-05-20 | criteria provided, single submitter | clinical testing | p.Leu169Leu in exon 4 of DNAAF1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 9/66736 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs370128838). |
| Invitae | RCV001443438 | SCV001646408 | likely benign | Primary ciliary dyskinesia | 2023-11-27 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV001443438 | SCV002644128 | likely benign | Primary ciliary dyskinesia | 2022-04-09 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |