Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001462685 | SCV001666610 | likely benign | Hereditary insensitivity to pain with anhidrosis | 2023-12-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002329536 | SCV002629578 | uncertain significance | Inborn genetic diseases | 2021-12-13 | criteria provided, single submitter | clinical testing | The c.429-3delC intronic variant, located in intron 4 of the NTRK1 gene, results from a deletion of one nucleotide within intron 4 of the NTRK1 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Ce |
RCV003326576 | SCV004032980 | uncertain significance | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | NTRK1: PM2, BP4 |