ClinVar Miner

Submissions for variant NM_018451.5(CENPJ):c.3448C>T (p.Gln1150Ter)

gnomAD frequency: 0.00001  dbSNP: rs587783410
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145577 SCV000192672 pathogenic Microcephaly 6, primary, autosomal recessive 2013-06-07 criteria provided, single submitter clinical testing

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