Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000730103 | SCV000857816 | uncertain significance | not provided | 2017-10-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002535141 | SCV003585254 | uncertain significance | Inborn genetic diseases | 2021-11-24 | criteria provided, single submitter | clinical testing | The c.880+5C>T intronic alteration consists of a C to T substitution 5 nucleotides after exon 12 (coding exon 11) of the PKHD1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |