ClinVar Miner

Submissions for variant NM_018451.5(CENPJ):c.3893G>A (p.Arg1298Gln)

gnomAD frequency: 0.00001  dbSNP: rs1477524771
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000625781 SCV000746329 likely pathogenic Microcephaly 6, primary, autosomal recessive 2020-05-03 criteria provided, single submitter clinical testing
Service de Génétique Moléculaire, Hôpital Robert Debré RCV000625781 SCV001432457 likely pathogenic Microcephaly 6, primary, autosomal recessive no assertion criteria provided clinical testing

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