Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000665245 | SCV000789334 | likely pathogenic | Bardet-Biedl syndrome 2 | 2017-01-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000802962 | SCV000942813 | pathogenic | Bardet-Biedl syndrome | 2023-12-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg594*) in the BBS2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS2 are known to be pathogenic (PMID: 11285252, 20177705, 24608809, 26518167). This variant is present in population databases (rs762047808, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 27032803). ClinVar contains an entry for this variant (Variation ID: 550489). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV002507153 | SCV002803034 | pathogenic | Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 | 2021-12-16 | criteria provided, single submitter | clinical testing | |
Eurofins- |
RCV000665245 | SCV003935097 | pathogenic | Bardet-Biedl syndrome 2 | 2022-11-24 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000665245 | SCV004214045 | pathogenic | Bardet-Biedl syndrome 2 | 2023-03-21 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000665245 | SCV002089262 | pathogenic | Bardet-Biedl syndrome 2 | 2021-01-05 | no assertion criteria provided | clinical testing |