Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000246246 | SCV000309527 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000293052 | SCV000408562 | likely benign | Holoprosencephaly sequence | 2016-06-14 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000755404 | SCV000605382 | benign | Holoprosencephaly 4 | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000755404 | SCV001720797 | benign | Holoprosencephaly 4 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001660230 | SCV001872468 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24215395) |