Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000591847 | SCV000709449 | uncertain significance | not provided | 2017-06-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000591847 | SCV001507165 | likely benign | not provided | 2023-11-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002532674 | SCV003567276 | uncertain significance | Inborn genetic diseases | 2021-08-16 | criteria provided, single submitter | clinical testing | The c.6290G>A (p.R2097H) alteration is located in exon 29 (coding exon 29) of the ADGRV1 gene. This alteration results from a G to A substitution at nucleotide position 6290, causing the arginine (R) at amino acid position 2097 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |