ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.2126_2129dup (p.Asn711fs) (rs312262890)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000033991 SCV000057921 pathologic Oral-facial-digital syndrome 2013-02-28 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000012299 SCV000032533 pathogenic Simpson-Golabi-Behmel syndrome, type 2 2006-09-01 no assertion criteria provided literature only

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