Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150334 | SCV000197436 | benign | not specified | 2014-04-24 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000150334 | SCV000224840 | benign | not specified | 2014-09-29 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000390508 | SCV000466509 | likely benign | Cystic fibrosis | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000515121 | SCV000610226 | likely benign | not provided | 2017-08-16 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000150334 | SCV001160048 | benign | not specified | 2018-10-18 | criteria provided, single submitter | clinical testing | |
CFTR- |
RCV000390508 | SCV001169202 | benign | Cystic fibrosis | 2018-01-29 | criteria provided, single submitter | curation | the variant does not result in CFTR-RD neither |
Ambry Genetics | RCV001172256 | SCV001170541 | likely benign | Inborn genetic diseases | 2018-11-06 | criteria provided, single submitter | clinical testing | Intact protein function observed by in vitro/ex vivo assays;Intronic alteration with no splicing impact by rt-pcr analysis or other splicing assay;Other strong data |