ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.1366G>T (p.Glu456Ter) (rs199422141)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxelles RCV000020744 SCV000998528 pathogenic Primary autosomal recessive microcephaly 5 criteria provided, single submitter clinical testing
GeneReviews RCV000020744 SCV000041323 pathologic Primary autosomal recessive microcephaly 5 2009-09-01 no assertion criteria provided curation Converted during submission to Pathogenic.

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