ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.689_706del (p.Ile230_Lys235del) (rs398122866)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000256359 SCV000323126 pathogenic Oral-facial-digital syndrome 2016-08-04 no assertion criteria provided literature only
OMIM RCV000029157 SCV000051802 pathogenic Joubert syndrome 10 2012-07-01 no assertion criteria provided literature only

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