Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000591612 | SCV000708665 | uncertain significance | not provided | 2017-05-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004543385 | SCV004773231 | uncertain significance | ABCB4-related disorder | 2023-11-22 | criteria provided, single submitter | clinical testing | The ABCB4 c.3298G>A variant is predicted to result in the amino acid substitution p.Ala1100Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.12% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-87035792-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |