ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu) (rs146251034)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000435733 SCV000510588 likely benign not provided 2016-11-07 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000638949 SCV000760506 benign Joubert syndrome; Orofaciodigital syndrome I 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000721041 SCV000851925 uncertain significance History of neurodevelopmental disorder 2012-08-30 criteria provided, single submitter clinical testing Insufficient or inconclusive evidence

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