ClinVar Miner

Submissions for variant NM_020547.3(AMHR2):c.994C>T (p.Arg332Ter)

gnomAD frequency: 0.00001  dbSNP: rs781745214
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001785743 SCV002782903 pathogenic Persistent Mullerian duct syndrome 2022-02-11 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Wuerzburg RCV000850306 SCV000992481 pathogenic Male pseudohermaphroditism no assertion criteria provided clinical testing

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