ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.710_719delinsACGAGGAGAA (p.Ile237_Met240delinsAsnGluGluLys) (rs786204728)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711384 SCV000841747 pathogenic not provided 2017-06-26 criteria provided, single submitter clinical testing
Myriad Women's Health, Inc. RCV000169566 SCV001193773 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2019-12-26 criteria provided, single submitter clinical testing NM_000500.7(CYP21A2):c.(710T>A;713T>A;719T>A)(I237N;V238E;M240K) is classified as pathogenic in the context of congenital adrenal hyperplasia and is associated with the classic form of the disease. Sources cited for classification include the following: PMID 2845408, 23359698 and 2249999. Classification of NM_000500.7(CYP21A2):c.(710T>A;713T>A;719T>A)(I237N;V238E;M240K) is based on the following criteria: This is a well-established pathogenic variant in the literature that has been observed more frequently in patients with clinical diagnoses than in healthy populations. Please note: this variant was assessed in the context of healthy population screening.

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