Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000392122 | SCV000341887 | uncertain significance | not provided | 2016-05-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003422199 | SCV004117232 | uncertain significance | PKHD1-related disorder | 2023-08-10 | criteria provided, single submitter | clinical testing | The PKHD1 c.8455C>T variant is predicted to result in the amino acid substitution p.Pro2819Ser. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |