ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.4195dup (p.Thr1399fs) (rs199422163)

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Total submissions: 5
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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 RCV000005252 SCV000998525 pathogenic Primary autosomal recessive microcephaly 5 criteria provided, single submitter clinical testing
New York Genome Center RCV000005252 SCV001480449 uncertain significance Primary autosomal recessive microcephaly 5 2020-05-22 criteria provided, single submitter clinical testing
OMIM RCV000005252 SCV000025430 pathogenic Primary autosomal recessive microcephaly 5 2008-06-01 no assertion criteria provided literature only
GeneReviews RCV000005252 SCV000041356 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 RCV000005252 SCV001432341 pathogenic Primary autosomal recessive microcephaly 5 no assertion criteria provided clinical testing

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