Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003331848 | SCV004037728 | uncertain significance | not specified | 2023-08-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003384368 | SCV004090181 | uncertain significance | Inborn genetic diseases | 2023-09-14 | criteria provided, single submitter | clinical testing | The c.1408G>T (p.G470C) alteration is located in exon 16 (coding exon 15) of the PKHD1 gene. This alteration results from a G to T substitution at nucleotide position 1408, causing the glycine (G) at amino acid position 470 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |