Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001487484 | SCV001691972 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002562714 | SCV003550770 | uncertain significance | Inborn genetic diseases | 2021-08-30 | criteria provided, single submitter | clinical testing | The c.6710G>A (p.R2237K) alteration is located in exon 41 (coding exon 40) of the PKHD1 gene. This alteration results from a G to A substitution at nucleotide position 6710, causing the arginine (R) at amino acid position 2237 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |