ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4789C>T (p.Arg1597Trp)

gnomAD frequency: 0.00001  dbSNP: rs747598216
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001542361 SCV001761053 uncertain significance Epilepsy, childhood absence, susceptibility to, 6 2020-07-10 criteria provided, single submitter clinical testing

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