ClinVar Miner

Submissions for variant NM_000044.6(AR):c.2191G>A (p.Val731Met)

gnomAD frequency: 0.00001  dbSNP: rs137852571
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002247310 SCV002518508 pathogenic Malignant tumor of prostate 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003764544 SCV004609662 benign Androgen resistance syndrome; Kennedy disease 2024-03-21 criteria provided, single submitter clinical testing
OMIM RCV000010491 SCV000030717 pathogenic Prostate cancer, somatic 1995-04-01 no assertion criteria provided literature only

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