ClinVar Miner

Submissions for variant NM_018451.5(CENPJ):c.1969C>T (p.Gln657Ter)

gnomAD frequency: 0.00001  dbSNP: rs797045450
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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 RCV000192998 SCV000246957 pathogenic Seckel syndrome 4 2014-12-04 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000192998 SCV001368414 pathogenic Seckel syndrome 4 2019-02-28 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PS1.
Fulgent Genetics, Fulgent Genetics RCV002485285 SCV002782978 likely pathogenic Microcephaly 6, primary, autosomal recessive; Seckel syndrome 4 2022-03-02 criteria provided, single submitter clinical testing

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