Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000820183 | SCV000960884 | likely benign | Autosomal recessive polycystic kidney disease | 2023-12-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003908108 | SCV004724832 | uncertain significance | PKHD1-related disorder | 2023-12-07 | criteria provided, single submitter | clinical testing | The PKHD1 c.2291C>T variant is predicted to result in the amino acid substitution p.Thr764Ile. This variant was reported in an individual with Polycystic kidney disease, autosomal dominant (Yu et al 2022. PubMed ID: 35778421). This variant is reported in 0.14% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-51913406-G-A). 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. |
Natera, |
RCV000820183 | SCV002081034 | uncertain significance | Autosomal recessive polycystic kidney disease | 2017-10-16 | no assertion criteria provided | clinical testing |