ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.1888_1889insTA (p.Asn630fs) (rs312262886)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000012297 SCV000057916 pathologic Oral-facial-digital syndrome 2013-02-28 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000012297 SCV000032531 pathogenic Oral-facial-digital syndrome 2002-04-01 no assertion criteria provided literature only

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