Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000595419 | SCV000702528 | uncertain significance | not provided | 2016-10-06 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002476284 | SCV000897301 | uncertain significance | Polycystic kidney disease 4 | 2022-02-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002531003 | SCV003699503 | uncertain significance | Inborn genetic diseases | 2021-08-13 | criteria provided, single submitter | clinical testing | The c.2090C>T (p.T697M) alteration is located in exon 21 (coding exon 20) of the PKHD1 gene. This alteration results from a C to T substitution at nucleotide position 2090, causing the threonine (T) at amino acid position 697 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |