Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000606227 | SCV000713821 | uncertain significance | not specified | 2018-01-24 | criteria provided, single submitter | clinical testing | The p.Ile323Thr variant in ADGRV1 has not been previously reported in individual s with hearing loss, but has been identified in 2/24018 African chromosomes and 2/126614 European chromosomes by the Genome Aggregation Database (gnomAD, http:/ /gnomad.broadinstitute.org; dbSNP rs757910491). Although this variant has been s een in the general population, its frequency is not high enough to rule out a pa thogenic role. Computational prediction tools and conservation analysis suggest that the p.Ile323Thr variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical si gnificance of the p.Ile323Thr variant is uncertain. ACMG/AMP Criteria applied: P M2; BP4. |
Invitae | RCV003698799 | SCV004471593 | likely benign | not provided | 2023-09-08 | criteria provided, single submitter | clinical testing |