ClinVar Miner

Submissions for variant NM_001393392.1(AKR1C2):c.270T>G (p.His90Gln)

dbSNP: rs797044460
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000022968 SCV000044259 pathogenic 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency 2011-08-12 no assertion criteria provided literature only

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