ClinVar Miner

Submissions for variant NM_001195553.2(DCX):c.-22-364C>T

gnomAD frequency: 0.00003  dbSNP: rs761786389
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NeuroMeGen, Hospital Clinico Santiago de Compostela RCV000585839 SCV000693760 likely pathogenic Lissencephaly type 1 due to doublecortin gene mutation 2018-01-01 criteria provided, single submitter clinical testing
Service de Génétique Moléculaire, Hôpital Robert Debré RCV000585839 SCV001432328 likely benign Lissencephaly type 1 due to doublecortin gene mutation no assertion criteria provided clinical testing

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