Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000250978 | SCV000309528 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000331659 | SCV000408563 | likely benign | Holoprosencephaly sequence | 2016-06-14 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000999804 | SCV000605381 | benign | Holoprosencephaly 4 | 2023-11-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000999804 | SCV001720799 | benign | Holoprosencephaly 4 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001541194 | SCV001759163 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24215395) |