ClinVar Miner

Submissions for variant NM_000103.4(CYP19A1):c.1142A>T (p.Asp381Val)

gnomAD frequency: 0.00001  dbSNP: rs773015145
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Endocrinology Laboratory, Christian Medical College RCV001667862 SCV001890906 uncertain significance Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency criteria provided, single submitter clinical testing

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