Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001201611 | SCV001372689 | likely benign | not provided | 2023-12-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002561082 | SCV003663907 | uncertain significance | Inborn genetic diseases | 2022-11-18 | criteria provided, single submitter | clinical testing | The c.9189A>C (p.L3063F) alteration is located in exon 43 (coding exon 43) of the ADGRV1 gene. This alteration results from a A to C substitution at nucleotide position 9189, causing the leucine (L) at amino acid position 3063 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |