ClinVar Miner

Submissions for variant NM_001394067.2(RAPGEF2):c.4923C>T (p.Pro1641=)

gnomAD frequency: 0.49329  dbSNP: rs1135004
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001794886 SCV002033440 benign Epilepsy, familial adult myoclonic, 7 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716819 SCV005303867 benign not provided criteria provided, single submitter not provided

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