Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000195696 | SCV000255024 | likely benign | Familial aplasia of the vermis | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000248598 | SCV000312891 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV001157001 | SCV001318544 | likely benign | Joubert syndrome 3 | 2017-04-28 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Gene |
RCV001596984 | SCV001830892 | uncertain significance | not provided | 2021-10-25 | criteria provided, single submitter | clinical testing | Reported in the heterozygous state in a parent of a child with JSRD, but did not segregate in the affected child and was concluded to be of unclear significance (Valente et al., 2006); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 16453322) |
Centre de Biologie Pathologie Génétique, |
RCV001252130 | SCV001427880 | likely benign | Intellectual disability | 2019-01-01 | no assertion criteria provided | clinical testing |