ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.111+2T>C (rs312262809)

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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 RCV000080338 SCV000112233 pathogenic not provided 2012-12-03 criteria provided, single submitter clinical testing
GeneReviews RCV000033957 SCV000057887 pathologic Orofaciodigital syndrome I 2013-02-28 no assertion criteria provided curation Converted during submission to Pathogenic.

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