ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.5863dup (p.Gln1955fs)

dbSNP: rs1571600860
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn RCV000856794 SCV000999357 pathogenic Microcephaly 1, primary, autosomal recessive criteria provided, single submitter clinical testing

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