Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mayo Clinic Laboratories, |
RCV000660433 | SCV000782523 | uncertain significance | Autosomal recessive polycystic kidney disease | 2016-11-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001766434 | SCV001998176 | uncertain significance | not provided | 2020-10-02 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV004026054 | SCV005005331 | uncertain significance | Inborn genetic diseases | 2024-01-19 | criteria provided, single submitter | clinical testing | The c.9076G>A (p.G3026R) alteration is located in exon 58 (coding exon 57) of the PKHD1 gene. This alteration results from a G to A substitution at nucleotide position 9076, causing the glycine (G) at amino acid position 3026 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |