ClinVar Miner

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

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Total submissions: 7
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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
Myriad Women's Health, Inc. RCV000012951 SCV001193783 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2019-12-17 criteria provided, single submitter clinical testing NM_000500.7(CYP21A2):c.955C>T(Q319*) is classified as pathogenic in the context of congenital adrenal hyperplasia, CYP21A2-related and is associated with the classic form of the disease. Sources cited for classification include the following: PMID 14715874, 3267225, 23359698 and 23769969. Classification of NM_000500.7(CYP21A2):c.955C>T(Q319*) is based on the following criteria: The variant causes a premature termination codon that is expected to be targeted by nonsense-mediated mRNA decay and is reported in individuals with the relevant phenotype. Please note: this variant was assessed in the context of healthy population screening.
Centogene AG - the Rare Disease Company RCV000012951 SCV001424397 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 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.
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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