ClinVar Miner

Submissions for variant NM_000044.6(AR):c.2343G>A (p.Met781Ile)

gnomAD frequency: 0.00001  dbSNP: rs137852589
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000584561 SCV000692163 pathogenic Androgen resistance syndrome 2009-03-23 no assertion criteria provided clinical testing

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