ClinVar Miner

Submissions for variant NM_018451.5(CENPJ):c.444+3A>G

gnomAD frequency: 0.00001  dbSNP: rs587783411
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145581 SCV000192676 uncertain significance Microcephaly 6, primary, autosomal recessive 2013-02-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000364611 SCV000383539 uncertain significance Primary Microcephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000272381 SCV000383540 uncertain significance Seckel syndrome 2016-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765129 SCV000896353 uncertain significance Microcephaly 6, primary, autosomal recessive; Seckel syndrome 4 2018-10-31 criteria provided, single submitter clinical testing

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