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
GeneReviews RCV000034007 SCV000057937 pathologic Oral-facial-digital syndrome 2013-02-28 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000034007 SCV000032529 pathogenic Oral-facial-digital syndrome 2001-03-01 no assertion criteria provided literature only

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