Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Breda Genetics srl | RCV001725857 | SCV001950185 | uncertain significance | Axenfeld-Rieger syndrome type 3 | 2021-04-12 | criteria provided, single submitter | clinical testing | Based on allele frequency, in-silico prediction scores, and a certain overlap with the clinical phenotype, we interpreted this variant at least as of uncertain significance. The lack of one or more of the following features has discouraged further investigations: lack of a possible second hit in autosomal recessive conditions, presence of healthy controls in databases for autosomal dominant conditions, presence of unmatching cardinal clinical features in the patient or in the known gene-disease association, and/or variant type outside the known gene mutational spectrum. |
| Fulgent Genetics, |
RCV002488486 | SCV002793848 | uncertain significance | Axenfeld-Rieger syndrome type 3; Anterior segment dysgenesis 3 | 2022-05-04 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004980629 | SCV005583731 | uncertain significance | Inborn genetic diseases | 2024-09-27 | criteria provided, single submitter | clinical testing | The c.1337A>G (p.H446R) alteration is located in exon 1 (coding exon 1) of the FOXC1 gene. This alteration results from a A to G substitution at nucleotide position 1337, causing the histidine (H) at amino acid position 446 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |