Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000732167 | SCV000860079 | uncertain significance | not provided | 2018-03-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001470943 | SCV001675043 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003165982 | SCV003868617 | uncertain significance | Inborn genetic diseases | 2023-02-14 | criteria provided, single submitter | clinical testing | The c.9571A>C (p.N3191H) alteration is located in exon 58 (coding exon 57) of the PKHD1 gene. This alteration results from a A to C substitution at nucleotide position 9571, causing the asparagine (N) at amino acid position 3191 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |