Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000174411 | SCV000225706 | benign | not specified | 2015-02-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000174411 | SCV000314809 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV001094291 | SCV000398057 | 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. |
Genetic Services Laboratory, |
RCV000174411 | SCV000593599 | likely benign | not specified | 2017-03-28 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000279525 | SCV000636524 | benign | Bardet-Biedl syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000709677 | SCV000745154 | likely benign | Bardet-Biedl syndrome 1 | 2017-06-28 | criteria provided, single submitter | clinical testing | |
Pars Genome Lab | RCV001094291 | SCV001652829 | likely benign | Bardet-Biedl syndrome 2 | 2021-05-18 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003884375 | SCV004700433 | likely benign | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | BBS2: BP4, BS2 |
Genome Diagnostics Laboratory, |
RCV000709677 | SCV000745822 | benign | Bardet-Biedl syndrome 1 | 2017-04-19 | no assertion criteria provided | clinical testing | |
Natera, |
RCV001094291 | SCV001457433 | benign | Bardet-Biedl syndrome 2 | 2020-09-16 | no assertion criteria provided | clinical testing | |
Clinical Genetics, |
RCV000174411 | SCV001917646 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000174411 | SCV001928787 | benign | not specified | no assertion criteria provided | clinical testing |