Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001062778 | SCV001227599 | likely benign | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003159178 | SCV003852999 | uncertain significance | not provided | 2023-03-31 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Prevention |
RCV003396702 | SCV004110376 | uncertain significance | CC2D2A-related condition | 2023-02-06 | criteria provided, single submitter | clinical testing | The CC2D2A c.2476G>A variant is predicted to result in the amino acid substitution p.Gly826Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.084% of alleles in individuals of European (Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/4-15554918-G-A). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |