ClinVar Miner

Submissions for variant NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) (rs7755898)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000711391 SCV000330930 pathogenic not provided 2017-08-03 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711391 SCV000841754 pathogenic not provided 2015-09-29 criteria provided, single submitter clinical testing
OMIM RCV000012951 SCV000033195 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2002-08-01 no assertion criteria provided literature only
GeneReviews RCV000012951 SCV000086806 pathologic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2013-08-29 no assertion criteria provided curation Converted during submission to Pathogenic.
Counsyl RCV000012951 SCV000677984 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2015-01-16 no assertion criteria provided clinical testing
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000012951 SCV000854658 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2018-04-27 no assertion criteria provided clinical testing

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