Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001331764 | SCV001523875 | uncertain significance | Glucocorticoid deficiency 4 | 2019-11-20 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Ambry Genetics | RCV002546504 | SCV003551815 | uncertain significance | Inborn genetic diseases | 2021-07-16 | criteria provided, single submitter | clinical testing | The c.1424C>T (p.T475M) alteration is located in exon 10 (coding exon 9) of the NNT gene. This alteration results from a C to T substitution at nucleotide position 1424, causing the threonine (T) at amino acid position 475 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |