Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000597720 | SCV000708948 | uncertain significance | not provided | 2017-05-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003424167 | SCV004117469 | uncertain significance | ABCC2-related condition | 2022-10-07 | criteria provided, single submitter | clinical testing | The ABCC2 c.2504G>A variant is predicted to result in the amino acid substitution p.Gly835Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/10-101578910-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |