ClinVar Miner

Submissions for variant NM_000198.4(HSD3B2):c.563A>G (p.Tyr188Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV003389126 SCV004101115 uncertain significance 3 beta-Hydroxysteroid dehydrogenase deficiency 2023-11-02 no assertion criteria provided clinical testing

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