ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.2387+11C>T

gnomAD frequency: 0.02280  dbSNP: rs140369491
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146984 SCV000194320 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000146984 SCV000309730 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000146984 SCV000516516 benign not specified 2016-03-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001512114 SCV001719461 benign Familial aplasia of the vermis; Orofaciodigital syndrome I 2024-01-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699127 SCV001926699 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000146984 SCV001968008 benign not specified no assertion criteria provided clinical testing

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