Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000317055 | SCV000351353 | likely benign | Kufor-Rakeb syndrome | 2018-01-12 | 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Ce |
RCV000513062 | SCV000608461 | likely benign | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | ATP13A2: PP3, BS2 |
Center for Genomics, |
RCV000768152 | SCV000898531 | uncertain significance | Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 | 2021-03-30 | criteria provided, single submitter | clinical testing | ATP13A2 NM_001141974 exon 27 p.Pro1124Leu (c.3371C>T): This variant has not been reported in the literature but is present in 0.5% (460/81050) of European alleles, including 2 homozygotes in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs189334432). This variant is present in ClinVar (Variation ID:293762). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Gene |
RCV000513062 | SCV001753062 | likely benign | not provided | 2020-08-13 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000513062 | SCV001740354 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000513062 | SCV001800518 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000513062 | SCV001975814 | likely benign | not provided | no assertion criteria provided | clinical testing |