Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000591315 | SCV000702747 | uncertain significance | not provided | 2018-02-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001453690 | SCV001657386 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002532394 | SCV003677292 | uncertain significance | Inborn genetic diseases | 2021-07-15 | criteria provided, single submitter | clinical testing | The c.3703C>T (p.R1235W) alteration is located in exon 32 (coding exon 31) of the PKHD1 gene. This alteration results from a C to T substitution at nucleotide position 3703, causing the arginine (R) at amino acid position 1235 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |