ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.332del (p.Gly111fs)

dbSNP: rs1582302950
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000991863 SCV001143691 pathogenic not provided 2020-10-07 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with clinical features associated with this gene.

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