ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.1923G>A (p.Glu641=) (rs145300245)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000080341 SCV000112236 benign not specified 2013-10-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000080341 SCV000248387 benign not specified 2016-03-18 criteria provided, single submitter clinical testing
Invitae RCV000206456 SCV000260360 benign Joubert syndrome; Orofaciodigital syndrome I 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000080341 SCV000309726 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000718907 SCV000849771 benign History of neurodevelopmental disorder 2017-02-07 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
GeneReviews RCV000033987 SCV000057917 non-pathogenic Orofaciodigital syndrome I 2013-02-28 no assertion criteria provided curation Converted during submission to Benign.

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