Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000728289 | SCV000855842 | uncertain significance | not provided | 2018-08-10 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV002477682 | SCV002781927 | uncertain significance | Benign recurrent intrahepatic cholestasis type 2; Progressive familial intrahepatic cholestasis type 2 | 2021-07-24 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000728289 | SCV003454184 | likely benign | not provided | 2024-03-16 | criteria provided, single submitter | clinical testing | |
| Neuberg Centre For Genomic Medicine, |
RCV003338772 | SCV004048533 | uncertain significance | Benign recurrent intrahepatic cholestasis type 2 | criteria provided, single submitter | clinical testing | The missense variant in c.506G>A (p.Arg169His) in ABCB11 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Arg169His variant is reported with the allele frequency of 0.007527% in gnomAD and is novel (not in any individuals) in 1000 Genomes. This variant has been reported to the ClinVar database as uncertain significance. The amino acid Arg at position 169 is changed to a His changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by SIFT and the residue is variable across species. For these reasons, this variant has been classified as Uncertain Significance. In the absence of another reportable variant, the molecular diagnosis is not confirmed. | |
| Breakthrough Genomics, |
RCV000728289 | SCV005188007 | uncertain significance | not provided | criteria provided, single submitter | not provided |