ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter) (rs145489194)

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Total submissions: 4
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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 RCV000005253 SCV000998531 pathogenic Primary autosomal recessive microcephaly 5 criteria provided, single submitter clinical testing
OMIM RCV000005253 SCV000025431 pathogenic Primary autosomal recessive microcephaly 5 2009-07-01 no assertion criteria provided literature only
GeneReviews RCV000005253 SCV000041332 pathologic Primary autosomal recessive microcephaly 5 2009-09-01 no assertion criteria provided curation Converted during submission to Pathogenic.
Service de Génétique Moléculaire,Hôpital Robert Debré RCV000005253 SCV001432354 pathogenic Primary autosomal recessive microcephaly 5 no assertion criteria provided clinical testing

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