ClinVar Miner

Submissions for variant NM_000044.4(AR):c.2395C>G (p.Gln799Glu) (rs137852591)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224621 SCV000281524 likely pathogenic not provided 2015-02-02 criteria provided, single submitter clinical testing
OMIM RCV000010520 SCV000030746 pathogenic Partial androgen insensitivity syndrome 1998-12-01 no assertion criteria provided literature only

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