ClinVar Miner

Submissions for variant NM_000497.3(CYP11B1):c.1120C>A (p.Arg374=) (rs61752786)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711393 SCV000841756 benign not provided 2017-11-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000029637 SCV000472330 likely benign Congenital adrenal hyperplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397180 SCV000472331 likely benign Hyperaldosteronism, familial, type I 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029637 SCV000052289 uncertain Congenital adrenal hyperplasia 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000454869 SCV000538763 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency (too high for associated disease - congenital adrenal hyperplasia)

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