ClinVar Miner

Submissions for variant NM_000198.4(HSD3B2):c.687_713del (p.Trp230_Ala238del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Biochemistry Laboratory, Health Services Laboratory RCV003459912 SCV004190286 pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency 2023-11-20 criteria provided, single submitter clinical testing ACMG:PM2 PM3 PP3 PP4

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