ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.294_312del (p.Ser98fs) (rs312262821)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000034007 SCV000032529 pathogenic Orofaciodigital syndrome I 2001-03-01 no assertion criteria provided literature only
GeneReviews RCV000034007 SCV000057937 pathologic Orofaciodigital syndrome I 2013-02-28 no assertion criteria provided curation Converted during submission to Pathogenic.

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