ClinVar Miner

Submissions for variant NM_000349.3(STAR):c.466-11T>A (rs1053284504)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673944 SCV000799204 uncertain significance Cholesterol monooxygenase (side-chain cleaving) deficiency 2018-04-11 criteria provided, single submitter clinical testing
OMIM RCV000673944 SCV000029767 pathogenic Cholesterol monooxygenase (side-chain cleaving) deficiency 1995-12-01 no assertion criteria provided literature only

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