ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr) (rs149647255)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146985 SCV000194321 benign not specified 2014-05-01 criteria provided, single submitter clinical testing
Invitae RCV000477252 SCV000554665 benign not provided 2018-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719045 SCV000849909 benign History of neurodevelopmental disorder 2017-01-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification,In silico models in agreement (benign),Does not segregate with disease in family study (genes with incomplete penetrance)

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