Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000597788 | SCV000702222 | uncertain significance | not provided | 2016-09-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004530662 | SCV004109423 | uncertain significance | ABCB4-related disorder | 2023-06-13 | criteria provided, single submitter | clinical testing | The ABCB4 c.1060A>G variant is predicted to result in the amino acid substitution p.Ile354Val. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |