Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000301446 | SCV000419185 | likely benign | Donnai-Barrow 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. |
Invitae | RCV000885594 | SCV001029053 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000885594 | SCV001772747 | uncertain significance | not provided | 2023-03-26 | criteria provided, single submitter | clinical testing | Observed in a child with sensorineural hearing loss, dysplastic bilateral vestibules, bilateral hypoplastic cochlea, and bilateral lateral and posterior semicircular canal aplasia in a published case report (Albazroun et al., 2018); however, no second LRP2 variant was reported and variants in other genes were also found; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: Albazroun_2018_Case report) |
Genome- |
RCV000301446 | SCV002055700 | likely benign | Donnai-Barrow syndrome | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003969954 | SCV004779961 | benign | LRP2-related condition | 2020-05-04 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |