Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000287756 | SCV000389958 | uncertain significance | Weill-Marchesani 4 syndrome, 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. |
| Invitae | RCV000971411 | SCV001119059 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
| Center for Genomics, |
RCV000287756 | SCV003919804 | likely benign | Weill-Marchesani 4 syndrome, recessive | 2022-04-26 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature but is present in 0.1% (22/19946) of East Asian alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/15-100692937-C-T?dataset=gnomad_r2_1), and also in ClinVar (Variation ID:315293). Of note, this variant is a silent variant and does not change the amino acid, and this nucleotide is not conserved evolutionarily, reducing the probability that this variant is disease causing. Furthermore, there is no predicted impact to splicing. In summary, data on this variant suggests that this variant does not cause disease but requires further evidence. Therefore, this variant is classified as likely benign. |