ClinVar Miner

Submissions for variant NM_015295.2(SMCHD1):c.1655G>A (p.Arg552Gln) (rs886042392)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000262076 SCV000333884 uncertain significance not provided 2015-08-06 criteria provided, single submitter clinical testing
Harvard Reproductive Endocrine Science Center,Massachusetts General Hospital RCV000497002 SCV000328618 pathogenic Arhinia choanal atresia microphthalmia no assertion criteria provided research

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