Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001424675 | SCV001627274 | likely benign | Autosomal recessive polycystic kidney disease | 2023-12-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002555126 | SCV003747613 | uncertain significance | Inborn genetic diseases | 2021-11-15 | criteria provided, single submitter | clinical testing | The c.4011T>G (p.D1337E) alteration is located in exon 32 (coding exon 31) of the PKHD1 gene. This alteration results from a T to G substitution at nucleotide position 4011, causing the aspartic acid (D) at amino acid position 1337 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001424675 | SCV002080970 | likely benign | Autosomal recessive polycystic kidney disease | 2019-10-10 | no assertion criteria provided | clinical testing |