Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000728806 | SCV000856422 | uncertain significance | not provided | 2018-05-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000813285 | SCV000953641 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003130027 | SCV003808432 | uncertain significance | Polycystic kidney disease 4 | 2022-08-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004026954 | SCV005006771 | uncertain significance | Inborn genetic diseases | 2023-12-11 | criteria provided, single submitter | clinical testing | The c.1201C>A (p.H401N) alteration is located in exon 15 (coding exon 14) of the PKHD1 gene. This alteration results from a C to A substitution at nucleotide position 1201, causing the histidine (H) at amino acid position 401 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV000813285 | SCV001463324 | uncertain significance | Autosomal recessive polycystic kidney disease | 2020-09-16 | no assertion criteria provided | clinical testing |