Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000871052 | SCV001012647 | benign | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001271331 | SCV001452416 | uncertain significance | Familial aplasia of the vermis | 2020-01-24 | no assertion criteria provided | clinical testing | |
Prevention |
RCV004733077 | SCV005347992 | uncertain significance | RPGRIP1L-related disorder | 2024-09-23 | no assertion criteria provided | clinical testing | The RPGRIP1L c.1808G>A variant is predicted to result in the amino acid substitution p.Gly603Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.10% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |