Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000248338 | SCV000314597 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Eurofins Ntd Llc |
RCV000248338 | SCV000339998 | benign | not specified | 2016-02-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001640574 | SCV001860788 | benign | not provided | 2018-07-05 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28973304) |
Genome- |
RCV001701917 | SCV001933121 | benign | Congenital bile acid synthesis defect 1 | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001640574 | SCV002326002 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing |