Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000382480 | SCV000341383 | uncertain significance | not provided | 2016-05-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000382480 | SCV001406542 | likely benign | not provided | 2024-01-14 | criteria provided, single submitter | clinical testing | |
Ocular Genomics Institute, |
RCV001374879 | SCV001572155 | uncertain significance | Usher syndrome type 2C | 2021-04-08 | criteria provided, single submitter | research | The ADGRV1 c.5830G>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PP3. Based on this evidence we have classified this variant as Variant of Uncertain Significance. |