Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000251760 | SCV000310994 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Center for Pediatric Genomic Medicine, |
RCV000514152 | SCV000609815 | likely benign | not provided | 2017-06-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001085184 | SCV001020631 | benign | Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000514152 | SCV001869653 | benign | not provided | 2020-06-01 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 21204792, 22967285) |