Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001212486 | SCV001384070 | likely benign | not provided | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003246761 | SCV003938435 | uncertain significance | Inborn genetic diseases | 2023-06-01 | criteria provided, single submitter | clinical testing | The c.15701A>G (p.K5234R) alteration is located in exon 74 (coding exon 74) of the ADGRV1 gene. This alteration results from a A to G substitution at nucleotide position 15701, causing the lysine (K) at amino acid position 5234 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |