ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.4080+27C>T

gnomAD frequency: 0.15457  dbSNP: rs78164677
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000834503 SCV000976272 benign not provided 2018-06-19 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.
Genetic Services Laboratory, University of Chicago RCV000145362 SCV000192441 likely benign not specified no assertion criteria provided clinical testing

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