ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.293-13C>G (rs6467)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624227 SCV000741505 pathogenic Inborn genetic diseases 2016-04-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Athena Diagnostics Inc RCV000711376 SCV000841739 pathogenic not provided 2017-03-29 criteria provided, single submitter clinical testing
Counsyl RCV000012939 SCV000678029 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2015-01-16 criteria provided, single submitter clinical testing NM_000500.7(CYP21A2):c.293-13C>G is a classic 21-hydroxylase-deficient congenital adrenal hyperplasia mutation.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000711376 SCV000330929 pathogenic not provided 2015-07-24 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000012939 SCV000893711 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2018-10-31 criteria provided, single submitter clinical testing
GeneReviews RCV000012939 SCV000086796 pathologic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2013-08-29 no assertion criteria provided curation Converted during submission to Pathogenic.
Institute of Human Genetics,Klinikum rechts der Isar RCV000012939 SCV000680184 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2017-10-26 criteria provided, single submitter clinical testing
OMIM RCV000012939 SCV000033181 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2003-08-01 no assertion criteria provided literature only

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