ClinVar Miner

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

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Total submissions: 11
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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 2020-12-02 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
Athena Diagnostics Inc RCV000080341 SCV001475330 benign not specified 2019-10-02 criteria provided, single submitter clinical testing
GeneDx RCV001529335 SCV001863987 benign not provided 2018-09-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 18546297)
GeneReviews RCV000033987 SCV000057917 non-pathogenic Orofaciodigital syndrome I 2013-02-28 no assertion criteria provided curation Converted during submission to Benign.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529335 SCV001742605 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000080341 SCV001918636 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001529335 SCV001931442 likely benign not provided no assertion criteria provided clinical testing

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