ClinVar Miner

Submissions for variant NM_000044.6(AR):c.2180G>T (p.Arg727Leu)

gnomAD frequency: 0.00141  dbSNP: rs137852593
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002247312 SCV002518506 pathogenic Malignant tumor of prostate 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003764545 SCV004584780 benign Androgen resistance syndrome; Kennedy disease 2024-02-23 criteria provided, single submitter clinical testing
OMIM RCV000010523 SCV000030749 pathogenic Prostate cancer susceptibility 2000-11-15 no assertion criteria provided literature only

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