Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000921680 | SCV001067091 | likely benign | DOCK2 deficiency | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003396548 | SCV004120238 | uncertain significance | DOCK2-related condition | 2023-06-16 | criteria provided, single submitter | clinical testing | The DOCK2 c.1316A>G variant is predicted to result in the amino acid substitution p.Asn439Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.32% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/5-169129364-A-G). 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. |