ClinVar Miner

Submissions for variant NM_001353921.2(ARHGEF9):c.31-29459T>C

gnomAD frequency: 0.00231  dbSNP: rs145382128
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004704207 SCV005210557 likely benign not provided criteria provided, single submitter not provided
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000781962 SCV000920416 likely benign Epilepsy 2017-07-26 no assertion criteria provided clinical testing

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