Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000860588 | SCV001000688 | benign | Bardet-Biedl syndrome | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001145005 | SCV001305636 | benign | Bardet-Biedl syndrome 12 | 2017-04-27 | 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 rule this variant out of causing disease. Therefore, this variant is classified as benign. |
Genome- |
RCV001145005 | SCV001781250 | benign | Bardet-Biedl syndrome 12 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001567696 | SCV001791430 | uncertain significance | not provided | 2019-11-11 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 27708425, 25133751) |
Natera, |
RCV001145005 | SCV001454985 | benign | Bardet-Biedl syndrome 12 | 2020-06-11 | no assertion criteria provided | clinical testing |