ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.2938C>T (p.Arg980Ter)

dbSNP: rs199422151
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Total submissions: 2
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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 RCV000856770 SCV000999324 pathogenic Microcephaly 1, primary, autosomal recessive criteria provided, single submitter clinical testing
GeneReviews RCV000020759 SCV000041338 not provided Microcephaly 5, primary, autosomal recessive no assertion provided literature only

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