Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000023540 | SCV001519990 | likely pathogenic | Desmosterolosis | 2019-11-07 | criteria provided, single submitter | clinical testing | This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
OMIM | RCV000023540 | SCV000044831 | pathogenic | Desmosterolosis | 2011-07-01 | no assertion criteria provided | literature only |