ClinVar Miner

Submissions for variant NM_001184785.2(PARD3):c.1046G>A (p.Arg349His) (rs199923448)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585284 SCV000692678 uncertain significance not provided 2017-10-01 criteria provided, single submitter clinical testing
Beijing Municipal Key Laboratory,Capital Institute of Pediatrics RCV000490789 SCV000299310 risk factor Neural tube defect 2016-05-01 no assertion criteria provided case-control

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