Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001243624 | SCV001416793 | likely benign | not provided | 2023-11-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002564069 | SCV003568771 | uncertain significance | Inborn genetic diseases | 2021-08-17 | criteria provided, single submitter | clinical testing | The c.1217T>C (p.I406T) alteration is located in exon 7 (coding exon 7) of the ADGRV1 gene. This alteration results from a T to C substitution at nucleotide position 1217, causing the isoleucine (I) at amino acid position 406 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |