ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) (rs6475)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622562 SCV000740722 pathogenic Inborn genetic diseases 2014-09-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Athena Diagnostics Inc RCV000711382 SCV000841745 pathogenic not provided 2015-06-11 criteria provided, single submitter clinical testing
Counsyl RCV000012933 SCV000678041 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2015-01-16 criteria provided, single submitter clinical testing NM_000500.7(CYP21A2):c.518T>A(I173N) is a classic 21-hydroxylase-deficient congenital adrenal hyperplasia mutation.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000711382 SCV000854779 pathogenic not provided 2018-07-20 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000012933 SCV000883113 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2018-11-21 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000012933 SCV000893712 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2018-10-31 criteria provided, single submitter clinical testing
GeneReviews RCV000012933 SCV000086799 pathologic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2013-08-29 no assertion criteria provided curation Converted during submission to Pathogenic.
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000012933 SCV000784270 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000012933 SCV000784271 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2018-03-05 criteria provided, single submitter clinical testing
OMIM RCV000012933 SCV000033174 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 1997-07-01 no assertion criteria provided literature only

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