Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000728288 | SCV000855841 | uncertain significance | not provided | 2017-07-19 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002499344 | SCV002784296 | uncertain significance | Polycystic kidney disease 4 | 2021-08-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002535066 | SCV003613050 | uncertain significance | Inborn genetic diseases | 2022-04-08 | criteria provided, single submitter | clinical testing | The c.3779C>T (p.A1260V) 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 3779, causing the alanine (A) at amino acid position 1260 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |