Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000954581 | SCV000717815 | benign | not provided | 2018-04-10 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000604304 | SCV000967043 | benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | p.Ala273Ala in exon 9 of CDC14A: 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 0.58% (379/65906) o f European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs28364884). |
Invitae | RCV000954581 | SCV001101222 | benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000954581 | SCV001143180 | benign | not provided | 2018-12-27 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000954581 | SCV001371298 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | CDC14A: BP4, BP7, BS2 |