ClinVar Miner

Submissions for variant NM_000497.3(CYP11B1):c.1003A>G (p.Asn335Asp) (rs61752766)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029633 SCV000052285 uncertain Congenital adrenal hyperplasia 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000029633 SCV000472342 likely benign Congenital adrenal hyperplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271806 SCV000472343 likely benign Hyperaldosteronism, familial, type I 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000518202 SCV000613031 uncertain significance not specified 2016-11-23 criteria provided, single submitter clinical testing

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