Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001401139 | SCV001602960 | likely benign | Autosomal recessive polycystic kidney disease | 2023-10-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002552730 | SCV003665247 | uncertain significance | Inborn genetic diseases | 2022-11-08 | criteria provided, single submitter | clinical testing | The c.3511C>G (p.L1171V) alteration is located in exon 30 (coding exon 29) of the PKHD1 gene. This alteration results from a C to G substitution at nucleotide position 3511, causing the leucine (L) at amino acid position 1171 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |