Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002302592 | SCV002599009 | uncertain significance | not specified | 2022-09-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003098031 | SCV003567105 | uncertain significance | Inborn genetic diseases | 2021-08-13 | criteria provided, single submitter | clinical testing | The c.2209T>A (p.S737T) alteration is located in exon 22 (coding exon 21) of the PKHD1 gene. This alteration results from a T to A substitution at nucleotide position 2209, causing the serine (S) at amino acid position 737 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |