ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.149G>A (p.Gly50Asp)

dbSNP: rs1555437424
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioinformatics Core, Luxembourg Center for Systems Biomedicine RCV000656033 SCV000588309 pathogenic Childhood epilepsy with centrotemporal spikes 2017-01-01 no assertion criteria provided case-control CAADphred>15

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