ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.*172dup

gnomAD frequency: 0.03631  dbSNP: rs113696479
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000318005 SCV000417757 likely benign Epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000374900 SCV000417758 likely benign Familial hemiplegic migraine 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001613077 SCV001842373 benign not provided 2018-06-23 criteria provided, single submitter clinical testing

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