Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002999646 | SCV003296087 | likely benign | not provided | 2023-06-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004068389 | SCV003987858 | uncertain significance | not specified | 2023-04-20 | criteria provided, single submitter | clinical testing | The c.1108C>T (p.R370W) alteration is located in exon 10 (coding exon 8) of the NIN gene. This alteration results from a C to T substitution at nucleotide position 1108, causing the arginine (R) at amino acid position 370 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |