Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000386223 | SCV000418949 | uncertain significance | Progressive familial intrahepatic cholestasis | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001475597 | SCV001679791 | likely benign | not provided | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003972400 | SCV004795484 | uncertain significance | ABCB11-related condition | 2024-02-09 | criteria provided, single submitter | clinical testing | The ABCB11 c.2834G>A variant is predicted to result in the amino acid substitution p.Ser945Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.027% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |