Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001470961 | SCV001675061 | likely benign | Autosomal recessive polycystic kidney disease | 2023-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002561952 | SCV003680812 | uncertain significance | Inborn genetic diseases | 2021-08-17 | criteria provided, single submitter | clinical testing | The c.1643A>G (p.K548R) alteration is located in exon 18 (coding exon 17) of the PKHD1 gene. This alteration results from a A to G substitution at nucleotide position 1643, causing the lysine (K) at amino acid position 548 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Mayo Clinic Laboratories, |
RCV003481110 | SCV004227259 | uncertain significance | not provided | 2022-11-21 | criteria provided, single submitter | clinical testing | BP4 |