Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002542939 | SCV003749829 | uncertain significance | Inborn genetic diseases | 2022-06-24 | criteria provided, single submitter | clinical testing | The c.7C>G (p.R3G) alteration is located in exon 1 (coding exon 1) of the NTRK1 gene. This alteration results from a C to G substitution at nucleotide position 7, causing the arginine (R) at amino acid position 3 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001279993 | SCV001467134 | uncertain significance | Hereditary insensitivity to pain with anhidrosis | 2020-04-17 | no assertion criteria provided | clinical testing |