Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000950701 | SCV000717825 | benign | not provided | 2019-03-25 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000613715 | SCV000967119 | benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | p.Ser9Ser in exon 2 of FAM65B: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 2.47% (193/7808) of E ast Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs2295197). |
Invitae | RCV000950701 | SCV001097030 | benign | not provided | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000950701 | SCV001145272 | benign | not provided | 2019-08-05 | criteria provided, single submitter | clinical testing |