ClinVar Miner

Submissions for variant NM_000044.6(AR):c.639G>A (p.Glu213=)

gnomAD frequency: 0.28599  dbSNP: rs6152
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244696 SCV000301612 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001513221 SCV001720796 benign Androgen resistance syndrome; Kennedy disease 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001689677 SCV001909815 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25241384, 19167832, 15824176, 11231320)
Breakthrough Genomics, Breakthrough Genomics RCV001689677 SCV005279387 benign not provided criteria provided, single submitter not provided
GeneReviews RCV000143829 SCV000188724 benign Androgen resistance syndrome 2014-07-10 no assertion criteria provided literature only

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