ClinVar Miner

Submissions for variant NM_000044.6(AR):c.2160del (p.Lys721fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Department,Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology RCV000991197 SCV001132681 pathogenic Androgen resistance syndrome 2019-12-25 criteria provided, single submitter clinical testing The frameshift variant in AR gene that is absent in control datasets. Detected in XY sex invertion patient.

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