Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003399648 | SCV004104669 | uncertain significance | WNT4-related disorder | 2023-05-08 | criteria provided, single submitter | clinical testing | The WNT4 c.667G>A variant is predicted to result in the amino acid substitution p.Ala223Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0080% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-22446932-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Fulgent Genetics, |
RCV005021935 | SCV005645916 | uncertain significance | Mullerian aplasia and hyperandrogenism; SERKAL syndrome | 2024-04-17 | criteria provided, single submitter | clinical testing |