ClinVar Miner

Submissions for variant NM_000044.6(AR):c.1153G>T (p.Ala385Ser)

gnomAD frequency: 0.00018  dbSNP: rs200067740
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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 RCV002497229 SCV002777188 uncertain significance Androgen resistance syndrome; Kennedy disease; Partial androgen insensitivity syndrome; Hypospadias 1, X-linked; Malignant tumor of prostate 2021-07-28 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000581819 SCV000692144 uncertain significance Androgen resistance syndrome 2008-06-02 no assertion criteria provided clinical testing

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