Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001094938 | SCV000447389 | benign | Bardet-Biedl syndrome 7 | 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Gene |
RCV000435007 | SCV000523495 | uncertain significance | not provided | 2016-02-21 | criteria provided, single submitter | clinical testing | The H502R variant in the BBS7 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. Although not present in the homozygous state, the NHLBI ESP Exome Sequencing Project reports H502R was observed in 87/4406 alleles (1.97%) from individuals of African American background, indicating it may be a rare variant in this population. The H502R variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret H502R as a variant of uncertain significance. |
Genome Diagnostics Laboratory, |
RCV000709647 | SCV000743645 | benign | Bardet-Biedl syndrome 1 | 2015-11-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000330267 | SCV001001585 | benign | Bardet-Biedl syndrome | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV001700075 | SCV001921690 | benign | not specified | no assertion criteria provided | clinical testing |