ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.1100G>A (p.Arg367Gln) (rs312262864)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000033956 SCV001141471 uncertain significance Orofaciodigital syndrome I 2019-05-28 criteria provided, single submitter clinical testing
GeneReviews RCV000033956 SCV000057886 pathologic Orofaciodigital syndrome I 2013-02-28 no assertion criteria provided curation Converted during submission to Pathogenic.

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