ClinVar Miner

Submissions for variant NM_014332.3(SMPX):c.217del (p.Ile73fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Wuerzburg RCV003881672 SCV004697330 likely pathogenic Hearing loss, X-linked 4 no assertion criteria provided clinical testing

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