Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000177303 | SCV000229149 | uncertain significance | not provided | 2014-12-02 | criteria provided, single submitter | clinical testing | |
| Athena Diagnostics | RCV000177303 | SCV001146148 | uncertain significance | not provided | 2023-01-03 | criteria provided, single submitter | clinical testing | Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools predict that this variant is not damaging. |
| Illumina Laboratory Services, |
RCV001117926 | SCV001276166 | uncertain significance | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | 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, |
RCV001117926 | SCV004563329 | uncertain significance | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | 2023-10-03 | criteria provided, single submitter | clinical testing | The TDP1 c.208T>A; p.Ser70Thr variant (rs140058160), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 196488). This variant is observed in the general population with an overall allele frequency 0.01% (34/282870 alleles) in the Genome Aggregation Database. Computational analyses predict that this variant is neutral (REVEL: 0.014). Due to limited information, the clinical significance of this variant is uncertain at this time. |
| Mayo Clinic Laboratories, |
RCV000177303 | SCV005409794 | uncertain significance | not provided | 2023-10-26 | criteria provided, single submitter | clinical testing | BP4, PM2_moderate |