Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001042783 | SCV001206487 | likely benign | not provided | 2023-12-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002553090 | SCV003737434 | uncertain significance | Inborn genetic diseases | 2021-07-14 | criteria provided, single submitter | clinical testing | The c.1978A>G (p.I660V) alteration is located in exon 10 (coding exon 10) of the ADGRV1 gene. This alteration results from a A to G substitution at nucleotide position 1978, causing the isoleucine (I) at amino acid position 660 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |