Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001240779 | SCV001413751 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002563980 | SCV003726386 | uncertain significance | Inborn genetic diseases | 2022-06-21 | criteria provided, single submitter | clinical testing | The c.11827C>G (p.R3943G) alteration is located in exon 57 (coding exon 57) of the ADGRV1 gene. This alteration results from a C to G substitution at nucleotide position 11827, causing the arginine (R) at amino acid position 3943 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |