Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002775135 | SCV003020052 | likely benign | Cataract 18 | 2024-04-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004973594 | SCV005594750 | uncertain significance | Inborn genetic diseases | 2024-08-26 | criteria provided, single submitter | clinical testing | The c.3425T>C (p.I1142T) alteration is located in exon 11 (coding exon 10) of the FYCO1 gene. This alteration results from a T to C substitution at nucleotide position 3425, causing the isoleucine (I) at amino acid position 1142 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003903770 | SCV004725032 | likely benign | FYCO1-related disorder | 2023-02-09 | 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). |