ClinVar Miner

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

dbSNP: 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 Microcephaly 5, primary, autosomal recessive criteria provided, single submitter clinical testing
New York Genome Center RCV000005252 SCV001480449 uncertain significance Microcephaly 5, primary, autosomal recessive 2020-05-22 criteria provided, single submitter clinical testing
OMIM RCV000005252 SCV000025430 pathogenic Microcephaly 5, primary, autosomal recessive 2008-06-01 no assertion criteria provided literature only
GeneReviews RCV000005252 SCV000041356 not provided Microcephaly 5, primary, autosomal recessive no assertion provided literature only
Service de Génétique Moléculaire, Hôpital Robert Debré RCV000005252 SCV001432341 pathogenic Microcephaly 5, primary, autosomal recessive no assertion criteria provided clinical testing

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