Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000667692 | SCV000398072 | uncertain significance | Bardet-Biedl syndrome 2 | 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. |
| Counsyl | RCV000667692 | SCV000792182 | likely benign | Bardet-Biedl syndrome 2 | 2017-06-09 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001239194 | SCV001412046 | likely benign | Bardet-Biedl syndrome | 2024-01-20 | criteria provided, single submitter | clinical testing | |
| Neuberg Centre For Genomic Medicine, |
RCV000667692 | SCV005044793 | uncertain significance | Bardet-Biedl syndrome 2 | criteria provided, single submitter | clinical testing | The synonymous c.327G>A p.Ser109 variant in BBS2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Ser109 variant has allele frequency 0.002% in gnomAD Exomes and is novel not in any individuals in 1000 Genomes. This variant has been reported to the ClinVar database as Likely benign / Uncertain Significance. This p.Ser109 type of mutation causes no change in the protein that is produced, which is why it's considered as synonymous mutation. For these reasons, this variant has been classified as Variant of Uncertain Significance VUS. | |
| Natera, |
RCV000667692 | SCV001464857 | uncertain significance | Bardet-Biedl syndrome 2 | 2020-05-28 | no assertion criteria provided | clinical testing |