ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.6686_6689del (p.Arg2229fs) (rs770540184)

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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 RCV001007666 SCV000998532 pathogenic Primary autosomal recessive microcephaly 5 criteria provided, single submitter clinical testing
Service de Génétique Moléculaire,Hôpital Robert Debré RCV001007666 SCV001432359 likely pathogenic Primary autosomal recessive microcephaly 5 no assertion criteria provided clinical testing

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