Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000871426 | SCV000513953 | likely benign | not provided | 2019-04-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002061448 | SCV002331760 | benign | Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002521529 | SCV003698461 | uncertain significance | Inborn genetic diseases | 2021-10-18 | criteria provided, single submitter | clinical testing | The c.16C>A (p.H6N) alteration is located in exon 1 (coding exon 1) of the NR0B1 gene. This alteration results from a C to A substitution at nucleotide position 16, causing the histidine (H) at amino acid position 6 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |