Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003414416 | SCV004106879 | likely pathogenic | PKHD1-related disorder | 2023-07-24 | criteria provided, single submitter | clinical testing | The PKHD1 c.3363_3364insATATA variant is predicted to result in a frameshift and premature protein termination (p.Gly1122Ilefs*2). 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. Frameshift variants in PKHD1 are expected to be pathogenic. This variant is interpreted as likely pathogenic. |
Baylor Genetics | RCV003459857 | SCV004204693 | likely pathogenic | Polycystic kidney disease 4 | 2023-03-30 | criteria provided, single submitter | clinical testing |