ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1661G>A (p.Arg554His) (rs201568579)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000516866 SCV000202106 pathogenic not provided 2014-02-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000516866 SCV000612231 pathogenic not provided 2016-12-13 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000516866 SCV000800835 pathogenic not provided 2015-12-16 no assertion criteria provided clinical testing

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