ClinVar Miner

Submissions for variant NM_018451.5(CENPJ):c.3367-1G>A (rs763715733)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477911 SCV000536696 likely pathogenic Primary autosomal recessive microcephaly 6; Seckel syndrome 4 2016-08-15 no assertion criteria provided research

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