Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000692866 | SCV000820712 | uncertain significance | Achondrogenesis, type IA | 2021-09-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002532226 | SCV003733919 | uncertain significance | Inborn genetic diseases | 2022-08-08 | criteria provided, single submitter | clinical testing | The c.1271T>G (p.I424S) alteration is located in exon 9 (coding exon 9) of the TRIP11 gene. This alteration results from a T to G substitution at nucleotide position 1271, causing the isoleucine (I) at amino acid position 424 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |