Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomic Medicine, |
RCV003988759 | SCV004805011 | likely benign | Pfeiffer syndrome | 2024-03-17 | criteria provided, single submitter | research | |
Gene |
RCV004794670 | SCV005414777 | uncertain significance | not provided | 2024-05-21 | criteria provided, single submitter | clinical testing | In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign in association with an FGFR2-related disorder to our knowledge; This variant is associated with the following publications: (PMID: 34426522, 11781872, 29230096, 28600779) |