Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000726923 | SCV000570335 | likely benign | not provided | 2021-04-12 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000726923 | SCV000704186 | uncertain significance | not provided | 2018-02-09 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000726923 | SCV001879976 | uncertain significance | not provided | 2023-03-17 | criteria provided, single submitter | clinical testing | Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools yielded predictions that this variant may result in the gain of a cryptic splice site without affecting the natural splice sites. |