Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001218072 | SCV001389939 | likely benign | not provided | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002535436 | SCV003679978 | uncertain significance | Inborn genetic diseases | 2022-06-21 | criteria provided, single submitter | clinical testing | The c.3203G>A (p.R1068K) alteration is located in exon 17 (coding exon 17) of the ADGRV1 gene. This alteration results from a G to A substitution at nucleotide position 3203, causing the arginine (R) at amino acid position 1068 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV000735734 | SCV000863887 | uncertain significance | Usher syndrome type 2C | 2018-05-22 | no assertion criteria provided | clinical testing |