ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.754A>G (p.Met252Val)

dbSNP: rs387906687
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000022770 SCV000044059 pathogenic Seizures, benign familial infantile, 3 2010-05-01 no assertion criteria provided literature only
Channelopathy-Associated Epilepsy Research Center RCV002319427 SCV002605490 not provided Complex neurodevelopmental disorder no assertion provided literature only

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