Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV001195186 | SCV001365484 | likely benign | not specified | 2019-10-08 | criteria provided, single submitter | clinical testing | The p.Ala2309Thr variant in ADGRV1 is classified as likely benign because it has been identified in 0.3% (36/10350) of Ashkenazi Jewish chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BS1. |
Invitae | RCV001442411 | SCV001645360 | likely benign | not provided | 2024-01-28 | criteria provided, single submitter | clinical testing |