ClinVar Miner

Submissions for variant NM_001353921.2(ARHGEF9):c.1322-49T>G

gnomAD frequency: 0.03802  dbSNP: rs56401522
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712789 SCV001945489 benign not provided 2018-06-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001712789 SCV005279360 benign not provided criteria provided, single submitter not provided
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000781964 SCV000920418 benign Epilepsy 2017-07-26 no assertion criteria provided clinical testing

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