ClinVar Miner

Submissions for variant NM_001194998.2(CEP152):c.2959C>T (p.Arg987Ter)

gnomAD frequency: 0.00003  dbSNP: rs267606718
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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 RCV000000073 SCV000998514 likely pathogenic Microcephaly 9, primary, autosomal recessive criteria provided, single submitter clinical testing
OMIM RCV000000073 SCV000020216 pathogenic Microcephaly 9, primary, autosomal recessive 2010-07-09 no assertion criteria provided literature only

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