Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000594651 | SCV000702482 | uncertain significance | not provided | 2016-10-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003983138 | SCV004800207 | uncertain significance | PKHD1-related disorder | 2024-02-15 | criteria provided, single submitter | clinical testing | The PKHD1 c.11789T>A variant is predicted to result in the amino acid substitution p.Met3930Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00089% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |