ClinVar Miner

Submissions for variant NM_001165963.1(SCN1A):c.2044-5delT (rs549232924)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614277 SCV000729850 likely benign not specified 2018-01-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000394088 SCV000417807 likely benign Familial hemiplegic migraine 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288507 SCV000417808 likely benign Epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000636483 SCV000757922 benign Early infantile epileptic encephalopathy 2017-10-19 criteria provided, single submitter clinical testing

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