Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001452032 | SCV001655679 | likely benign | Familial acute necrotizing encephalopathy | 2022-10-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004028503 | SCV004934400 | uncertain significance | not specified | 2024-01-04 | criteria provided, single submitter | clinical testing | The c.4207A>G (p.N1403D) alteration is located in exon 20 (coding exon 20) of the RANBP2 gene. This alteration results from a A to G substitution at nucleotide position 4207, causing the asparagine (N) at amino acid position 1403 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |