ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.400_403del (p.Glu134fs) (rs312262830)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV000590449 SCV000693898 pathogenic Joubert syndrome 10 2017-06-25 criteria provided, single submitter research De novo variant in proband, maternity and paternity confirmed (PS2). Previously reported pathogenic in 2 manuscripts but unclear if same patient described (PMID: 18546297; PMID: 24884629). Protein truncating variants are a known disease mechainism (PVS1) and absent from gnomAD (PM2).
Baylor Genetics RCV000850574 SCV000992795 pathogenic Orofaciodigital syndrome I; Simpson-Golabi-Behmel syndrome, type 2; Joubert syndrome 10 2017-12-31 criteria provided, single submitter clinical testing
GeneReviews RCV000034016 SCV000057946 pathologic Orofaciodigital syndrome I 2013-02-28 no assertion criteria provided curation Converted during submission to Pathogenic.

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