Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000306123 | SCV000365433 | uncertain significance | Cone-rod dystrophy 15 | 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. |
Gene |
RCV000494444 | SCV000582523 | uncertain significance | not provided | 2017-05-12 | criteria provided, single submitter | clinical testing | The c.1553+6T>C variant in the CDHR1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant reduces the quality of the natural splice donor site in intron 14, and is predicted to cause abnormal gene splicing. The c.1553+6T>C variant is observed in 155/66730 (0.23%) alleles from individuals of non-Finnish European background in large population cohorts in the ExAC dataset (Lek et al., 2016). We interpret c.1553+6T>C as a variant of uncertain significance. |
Invitae | RCV000494444 | SCV001026332 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000494444 | SCV002821521 | likely benign | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | CDHR1: BP4 |