ClinVar Miner

Submissions for variant NM_001184785.2(PARD3):c.3736G>A (p.Gly1246Ser)

gnomAD frequency: 0.00003  dbSNP: rs757259023
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Beijing Municipal Key Laboratory, Capital Institute of Pediatrics RCV000490778 SCV000299306 risk factor Neural tube defect 2016-05-01 no assertion criteria provided case-control

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