Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000596966 | SCV000704005 | uncertain significance | not provided | 2016-11-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004543343 | SCV004762877 | uncertain significance | ABCB4-related disorder | 2024-02-02 | criteria provided, single submitter | clinical testing | The ABCB4 c.3131C>T variant is predicted to result in the amino acid substitution p.Pro1044Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.024% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |