Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV002493470 | SCV002788458 | uncertain significance | Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 | 2021-11-01 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001277879 | SCV001464858 | uncertain significance | Bardet-Biedl syndrome 2 | 2020-08-14 | no assertion criteria provided | clinical testing | |
Prevention |
RCV004733220 | SCV005357081 | uncertain significance | BBS2-related disorder | 2023-12-08 | no assertion criteria provided | clinical testing | The BBS2 c.142C>T variant is predicted to result in the amino acid substitution p.Arg48Trp. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |