Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000733756 | SCV000861853 | uncertain significance | not provided | 2018-06-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004535872 | SCV004756580 | uncertain significance | ABCB4-related disorder | 2023-12-04 | criteria provided, single submitter | clinical testing | The ABCB4 c.2435C>A variant is predicted to result in the amino acid substitution p.Ala812Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-87047896-G-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |