Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000537519 | SCV000637381 | likely benign | Familial melanoma | 2024-11-18 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV001109392 | SCV001266726 | benign | Melanoma, cutaneous malignant, susceptibility to, 3 | 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
| Breakthrough Genomics, |
RCV004704068 | SCV005216045 | likely benign | not provided | criteria provided, single submitter | not provided | ||
| Myriad Genetics, |
RCV001109392 | SCV005403383 | likely benign | Melanoma, cutaneous malignant, susceptibility to, 3 | 2024-09-26 | criteria provided, single submitter | clinical testing | This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing. |
| Prevention |
RCV003419947 | SCV004106757 | uncertain significance | CDK4-related disorder | 2024-09-27 | no assertion criteria provided | clinical testing | The CDK4 c.633-8C>T variant is predicted to interfere with splicing. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.082% of alleles in individuals of South Asian descent in gnomAD. This variant has conflicting interpretations in ClinVar ranging from uncertain significance to benign (https://www.ncbi.nlm.nih.gov/clinvar/variation/463476/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |