Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000981767 | SCV001129768 | likely benign | Treacher Collins syndrome 1 | 2022-09-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001615090 | SCV001836801 | benign | not provided | 2021-05-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004030057 | SCV004961966 | uncertain significance | Inborn genetic diseases | 2023-12-28 | criteria provided, single submitter | clinical testing | The c.866G>A (p.S289N) alteration is located in exon 7 (coding exon 7) of the TCOF1 gene. This alteration results from a G to A substitution at nucleotide position 866, causing the serine (S) at amino acid position 289 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV004746188 | SCV005355677 | likely benign | TCOF1-related disorder | 2024-09-03 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |