ClinVar Miner

Submissions for variant NM_000349.3(STAR):c.197_198CT[2] (p.Tyr68fs) (rs1563268652)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713525 SCV000844147 pathogenic not provided 2018-07-24 criteria provided, single submitter clinical testing
OMIM RCV000009561 SCV000029779 pathogenic Cholesterol monooxygenase (side-chain cleaving) deficiency 2007-10-01 no assertion criteria provided literature only

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