ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.4058C>T (p.Pro1353Leu) (rs755088564)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487606 SCV000575019 uncertain significance not provided 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000651621 SCV000773475 benign Epileptic encephalopathy, childhood-onset 2019-05-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719232 SCV000850098 uncertain significance History of neurodevelopmental disorder 2016-07-20 criteria provided, single submitter clinical testing Insufficient evidence
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656034 SCV000588310 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15

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