ClinVar Miner

Submissions for variant NM_000044.6(AR):c.1513C>A (p.Pro505Thr)

gnomAD frequency: 0.00002  dbSNP: rs764238988
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000625844 SCV000746412 uncertain significance Androgen resistance syndrome 2017-12-03 criteria provided, single submitter clinical testing
Institute of Reproductive Genetics, University of Münster RCV003983149 SCV004800812 likely pathogenic Male infertility 2024-01-16 criteria provided, single submitter research

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