Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000606944 | SCV000711034 | likely benign | not specified | 2017-12-05 | criteria provided, single submitter | clinical testing | p.Gln235Gln in exon 7 of ADGRV1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 5/97140 European ch romosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitu te.org; dbSNP rs372853480). |
Invitae | RCV001055119 | SCV001219489 | likely benign | not provided | 2023-05-27 | criteria provided, single submitter | clinical testing |