Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000729075 | SCV000856711 | uncertain significance | not provided | 2017-09-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002507288 | SCV002814409 | uncertain significance | Polycystic kidney disease 4 | 2021-08-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002533098 | SCV003746940 | uncertain significance | Inborn genetic diseases | 2022-12-06 | criteria provided, single submitter | clinical testing | The c.10252G>A (p.A3418T) alteration is located in exon 61 (coding exon 60) of the PKHD1 gene. This alteration results from a G to A substitution at nucleotide position 10252, causing the alanine (A) at amino acid position 3418 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |