ClinVar Miner

Submissions for variant NM_002547.3(OPHN1):c.702+11A>C

gnomAD frequency: 0.00125  dbSNP: rs375325266
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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 RCV000146994 SCV000194331 uncertain significance X-linked intellectual disability-cerebellar hypoplasia syndrome 2013-06-12 criteria provided, single submitter clinical testing
GeneDx RCV000602691 SCV000715373 likely benign not specified 2017-10-18 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002055911 SCV002324234 benign not provided 2024-12-19 criteria provided, single submitter clinical testing

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