Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000732796 | SCV000860782 | uncertain significance | not provided | 2018-04-10 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002493347 | SCV002777986 | uncertain significance | Dubin-Johnson syndrome | 2021-11-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003420309 | SCV004108603 | uncertain significance | ABCC2-related condition | 2023-04-07 | criteria provided, single submitter | clinical testing | The ABCC2 c.517G>A variant is predicted to result in the amino acid substitution p.Gly173Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0080% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/10-101553697-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |