ClinVar Miner

Submissions for variant NM_018451.5(CENPJ):c.3586G>A (p.Asp1196Asn)

dbSNP: rs1555294652
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Molecular Genetics and Metabolic Disorders, Pakistan Institute for Engineering and Applied Science (PIEAS) RCV000678241 SCV000693444 pathogenic Microcephaly 6, primary, autosomal recessive no assertion criteria provided research

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