ClinVar Miner

Submissions for variant NM_000781.3(CYP11A1):c.707C>A (p.Ala236Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003989359 SCV004808119 uncertain significance Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2024-03-29 criteria provided, single submitter clinical testing

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