ClinVar Miner

Submissions for variant NM_020547.3(AMHR2):c.64C>T (p.Arg22Ter)

gnomAD frequency: 0.00001  dbSNP: rs755196112
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001822809 SCV002070475 pathogenic not provided 2017-12-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005006079 SCV005636858 likely pathogenic Persistent Mullerian duct syndrome 2024-04-09 criteria provided, single submitter clinical testing

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