Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000472341 | SCV000550921 | benign | Primary ciliary dyskinesia | 2023-10-03 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV003651837 | SCV004562384 | uncertain significance | Primary ciliary dyskinesia 18 | 2023-08-30 | criteria provided, single submitter | clinical testing | The DNAAF5 c.2024C>T; p.Thr675Met variant (rs757110526) to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 410295). This variant is observed in the Latino/Admixed American population with an allele frequency of 0.2% (77/35,218 alleles, including 2 homozygotes) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is deleterious or neutral (REVEL: 0.426). Due to limited information, the clinical significance of this variant is uncertain at this time. |
| Ambry Genetics | RCV000472341 | SCV005027414 | likely benign | Primary ciliary dyskinesia | 2024-01-17 | 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. |