Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000523495 | SCV000621889 | likely benign | not provided | 2020-09-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003159695 | SCV003896761 | uncertain significance | Inborn genetic diseases | 2023-01-23 | criteria provided, single submitter | clinical testing | The c.878A>C (p.N293T) alteration is located in exon 4 (coding exon 3) of the NRXN1 gene. This alteration results from a A to C substitution at nucleotide position 878, causing the asparagine (N) at amino acid position 293 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |