Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000317880 | SCV000345856 | uncertain significance | not provided | 2017-08-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003417925 | SCV004115296 | uncertain significance | ABCC2-related condition | 2023-02-09 | criteria provided, single submitter | clinical testing | The ABCC2 c.650A>C variant is predicted to result in the amino acid substitution p.Tyr217Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.082% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/10-101556871-A-C). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |