Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000408766 | SCV000484852 | uncertain significance | Blepharophimosis, ptosis, and epicanthus inversus syndrome | 2016-11-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002524614 | SCV003740060 | uncertain significance | Inborn genetic diseases | 2022-04-08 | criteria provided, single submitter | clinical testing | The c.233C>A (p.S78Y) alteration is located in exon 1 (coding exon 1) of the FOXL2 gene. This alteration results from a C to A substitution at nucleotide position 233, causing the serine (S) at amino acid position 78 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |