ClinVar Miner

Submissions for variant NM_018451.5(CENPJ):c.3478-49C>T

gnomAD frequency: 0.78901  dbSNP: rs1530876
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000833224 SCV000974985 benign not provided 2018-06-16 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.
Genome-Nilou Lab RCV001578981 SCV001806359 benign Seckel syndrome 4 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578982 SCV001806360 benign Microcephaly 6, primary, autosomal recessive 2021-07-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000833224 SCV005230899 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000145578 SCV000192673 likely benign not specified no assertion criteria provided clinical testing

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