ClinVar Miner

Submissions for variant NM_000500.7:c.*28698024_*28698031del8

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169563 SCV000221059 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2015-01-20 criteria provided, single submitter literature only

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