Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001232286 | SCV001404836 | likely benign | not provided | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003365274 | SCV004083350 | uncertain significance | Inborn genetic diseases | 2023-08-08 | criteria provided, single submitter | clinical testing | The c.1015G>C (p.E339Q) alteration is located in exon 7 (coding exon 7) of the ADGRV1 gene. This alteration results from a G to C substitution at nucleotide position 1015, causing the glutamic acid (E) at amino acid position 339 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |