ClinVar Miner

Submissions for variant NM_018451.5(CENPJ):c.1410G>A (p.Pro470=)

gnomAD frequency: 0.00054  dbSNP: rs115628561
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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 RCV000145553 SCV000192646 uncertain significance Microcephaly 6, primary, autosomal recessive 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000900698 SCV000732109 likely benign not provided 2020-11-13 criteria provided, single submitter clinical testing
Invitae RCV000900698 SCV001045029 likely benign not provided 2023-07-27 criteria provided, single submitter clinical testing

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