Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000729655 | SCV000857331 | uncertain significance | not provided | 2017-10-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004649302 | SCV005144733 | uncertain significance | Inborn genetic diseases | 2024-06-07 | criteria provided, single submitter | clinical testing | The c.2800C>T (p.R934W) alteration is located in exon 21 (coding exon 21) of the ABCC2 gene. This alteration results from a C to T substitution at nucleotide position 2800, causing the arginine (R) at amino acid position 934 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |