Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000514997 | SCV000611034 | likely benign | not provided | 2017-08-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000514997 | SCV000718716 | benign | not provided | 2019-07-11 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000600676 | SCV000967111 | benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | p.Leu612Phe in exon 14 of FAM65B: This variant is not expected to have clinical significance because it has been identified in 1.57% (151/9612) of African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs143785002). |
Invitae | RCV000514997 | SCV001027986 | benign | not provided | 2024-01-15 | criteria provided, single submitter | clinical testing |