ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.3055C>T (p.Arg1019Ter)

dbSNP: rs199422153
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000020761 SCV002019629 pathogenic Microcephaly 5, primary, autosomal recessive 2019-12-21 criteria provided, single submitter clinical testing
GeneReviews RCV000020761 SCV000041340 not provided Microcephaly 5, primary, autosomal recessive no assertion provided literature only

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