ClinVar Miner

Submissions for variant NM_014762.4(DHCR24):c.571G>A (p.Glu191Lys)

gnomAD frequency: 0.00001  dbSNP: rs119475041
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000004617 SCV000594359 likely pathogenic Desmosterolosis 2016-03-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000004617 SCV002792873 likely pathogenic Desmosterolosis 2022-03-08 criteria provided, single submitter clinical testing
OMIM RCV000004617 SCV000024791 pathogenic Desmosterolosis 2001-10-01 no assertion criteria provided literature only

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