Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000728567 | SCV000856159 | uncertain significance | not provided | 2017-08-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002536413 | SCV003557216 | uncertain significance | Inborn genetic diseases | 2021-06-22 | criteria provided, single submitter | clinical testing | The c.2303G>A (p.R768Q) alteration is located in exon 18 (coding exon 18) of the ABCC2 gene. This alteration results from a G to A substitution at nucleotide position 2303, causing the arginine (R) at amino acid position 768 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |