Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000728643 | SCV000856243 | uncertain significance | not provided | 2017-08-08 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV002249440 | SCV002516816 | uncertain significance | not specified | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004535813 | SCV004708512 | uncertain significance | ABCB4-related disorder | 2024-01-16 | criteria provided, single submitter | clinical testing | The ABCB4 c.1481G>A variant is predicted to result in the amino acid substitution p.Arg494His. This variant has been reported in the heterozygous state in an individual with cholelithiasis (Gouveia et al. 2020. PubMed ID: 32650689). This variant is reported in 0.014% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |