Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000733367 | SCV000861430 | uncertain significance | not provided | 2018-05-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001088603 | SCV001008448 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002535325 | SCV003640753 | uncertain significance | Inborn genetic diseases | 2023-08-30 | criteria provided, single submitter | clinical testing | The c.1255G>A (p.V419I) alteration is located in exon 16 (coding exon 15) of the PKHD1 gene. This alteration results from a G to A substitution at nucleotide position 1255, causing the valine (V) at amino acid position 419 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001088603 | SCV001463516 | uncertain significance | Autosomal recessive polycystic kidney disease | 2018-05-07 | no assertion criteria provided | clinical testing |