ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.308G>A (p.Arg103Lys)

gnomAD frequency: 0.25928  dbSNP: rs6474
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Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245772 SCV000304552 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711377 SCV000841740 benign not provided 2017-07-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000055817 SCV001876496 benign Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2021-07-30 criteria provided, single submitter clinical testing
GeneReviews RCV000055817 SCV000086797 not provided Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency no assertion provided literature only

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