ClinVar Miner

Submissions for variant NM_000500.9:c.(?_-50)_(939+1_940-1)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001724777 SCV001950081 likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2021-07-21 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous with Protein change: p.(=):c.293-13C>G.

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