Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001075010 | SCV001240620 | likely pathogenic | Retinal dystrophy | 2018-02-08 | criteria provided, single submitter | clinical testing | |
OMIM | RCV001644912 | SCV001852755 | pathogenic | Vitelliform macular dystrophy 5 | 2021-09-10 | no assertion criteria provided | literature only |