Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001039795 | SCV001203342 | likely benign | not provided | 2023-04-12 | criteria provided, single submitter | clinical testing | |
New York Genome Center | RCV001839027 | SCV002099024 | uncertain significance | Febrile seizures, familial, 4 | 2021-04-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003346268 | SCV004066215 | uncertain significance | Inborn genetic diseases | 2023-08-28 | criteria provided, single submitter | clinical testing | The c.15415G>C (p.E5139Q) alteration is located in exon 74 (coding exon 74) of the ADGRV1 gene. This alteration results from a G to C substitution at nucleotide position 15415, causing the glutamic acid (E) at amino acid position 5139 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |