Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000594292 | SCV000704482 | uncertain significance | not provided | 2017-01-05 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV001001026 | SCV001158134 | uncertain significance | Spondylocostal dysostosis 1, autosomal recessive | 2019-01-24 | criteria provided, single submitter | clinical testing | The DLL3 c.982G>T; p.Val328Phe variant (rs749513254), to our knowledge, is not described in the medical literature but contains an entry in ClinVar (Variation ID: 499140). It is observed in the Latino population at an overall frequency of 0.19% (67/35436 alleles, 1 homozygote) in the Genome Aggregation Database. The valine at codon 328 is highly conserved, and computational algorithms (PolyPhen-2, SIFT) predict that this variant is deleterious. However, due to the lack of clinical and functional data regarding this variant, its clinical significance cannot be determined with certainty. |
| Illumina Laboratory Services, |
RCV001001026 | SCV001288162 | uncertain significance | Spondylocostal dysostosis 1, autosomal recessive | 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. |
| Illumina Laboratory Services, |
RCV001128678 | SCV001288163 | uncertain significance | Syndactyly | 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. |
| Invitae | RCV000594292 | SCV002375596 | likely benign | not provided | 2023-12-20 | criteria provided, single submitter | clinical testing |