ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.806G>C (p.Ser269Thr)

gnomAD frequency: 0.13352  dbSNP: rs6472
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000252481 SCV000304565 benign not specified criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000252481 SCV000540566 benign not specified 2016-03-29 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
Athena Diagnostics Inc RCV000055819 SCV000677266 benign Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2017-04-13 criteria provided, single submitter clinical testing
OMIM RCV000024069 SCV000045360 benign 21-HYDROXYLASE POLYMORPHISM 1991-08-01 no assertion criteria provided literature only
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029655 SCV000052307 not provided Congenital adrenal hyperplasia 2015-10-02 no assertion provided clinical testing
GeneReviews RCV000055819 SCV000086801 not provided Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency no assertion provided literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529036 SCV001741812 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000252481 SCV001955180 benign not specified no assertion criteria provided clinical testing

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