Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000673434 | SCV000798636 | uncertain significance | Autosomal recessive polycystic kidney disease | 2018-03-15 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000673434 | SCV001137150 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000673434 | SCV001511955 | uncertain significance | Autosomal recessive polycystic kidney disease | 2020-09-24 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with PKHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 557308). This variant is not present in population databases (ExAC no frequency). This variant, c.1242_1250del, results in the deletion of 3 amino acid(s) of the PKHD1 protein (p.Ala415_Ile417del), but otherwise preserves the integrity of the reading frame. |
Natera, |
RCV000673434 | SCV002081087 | uncertain significance | Autosomal recessive polycystic kidney disease | 2020-09-29 | no assertion criteria provided | clinical testing |