ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.1961G>A (p.Arg654Gln)

gnomAD frequency: 0.00011  dbSNP: rs746612831
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000899438 SCV001155895 uncertain significance not provided 2016-12-01 criteria provided, single submitter clinical testing
Invitae RCV002065676 SCV002492327 benign Familial aplasia of the vermis; Orofaciodigital syndrome I 2023-11-19 criteria provided, single submitter clinical testing

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