Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000500220 | SCV000593581 | uncertain significance | not specified | 2016-12-18 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000726690 | SCV000702119 | uncertain significance | not provided | 2016-10-15 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001086879 | SCV001007539 | likely benign | Bardet-Biedl syndrome | 2024-01-26 | criteria provided, single submitter | clinical testing | |
New York Genome Center | RCV001274039 | SCV002764286 | uncertain significance | Bardet-Biedl syndrome 1 | 2021-06-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000726690 | SCV004023509 | uncertain significance | not provided | 2024-10-07 | criteria provided, single submitter | clinical testing | Reported along with a second variant in the BBS1 gene in a patient with congenital heart disease in the published literature; however, evidence in support of pathogenicity for this variant was not provided in the report (PMID: 28991257); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 28991257) |
Natera, |
RCV001274039 | SCV001457744 | likely benign | Bardet-Biedl syndrome 1 | 2020-04-14 | no assertion criteria provided | clinical testing | |
Prevention |
RCV003979884 | SCV004797473 | likely benign | BBS1-related disorder | 2020-01-17 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |