Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002678574 | SCV003553869 | uncertain significance | Inborn genetic diseases | 2022-06-21 | criteria provided, single submitter | clinical testing | The c.5068T>G (p.C1690G) alteration is located in exon 38 (coding exon 38) of the ARFGEF2 gene. This alteration results from a T to G substitution at nucleotide position 5068, causing the cysteine (C) at amino acid position 1690 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV003485825 | SCV004234485 | uncertain significance | Periventricular heterotopia with microcephaly, autosomal recessive | 2023-04-17 | criteria provided, single submitter | clinical testing |