Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003004496 | SCV003712643 | uncertain significance | Inborn genetic diseases | 2022-10-05 | criteria provided, single submitter | clinical testing | The c.4451A>G (p.H1484R) alteration is located in exon 32 (coding exon 32) of the ARFGEF2 gene. This alteration results from a A to G substitution at nucleotide position 4451, causing the histidine (H) at amino acid position 1484 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |