Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000225844 | SCV000290914 | likely benign | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000763863 | SCV000894797 | uncertain significance | Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004529415 | SCV004107298 | uncertain significance | CEP290-related disorder | 2024-02-14 | criteria provided, single submitter | clinical testing | The CEP290 c.4938A>G variant is not predicted to result in an amino acid change (p.=). Available splicing prediction programs indicate that this variant may lead to the creation of a novel splice donor site (Alamut Visual Plus v1.6.1). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.023% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Natera, |
RCV001273065 | SCV001455652 | uncertain significance | Leber congenital amaurosis | 2020-04-17 | no assertion criteria provided | clinical testing |