ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met) (rs140731963)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188927 SCV000242557 benign not provided 2019-02-27 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27231140, 19522081, 21719429, 28202706, 28150151, 26990884, 31009440)
Invitae RCV000188927 SCV000559689 likely benign not provided 2019-02-03 criteria provided, single submitter clinical testing
Mendelics RCV000986886 SCV001136035 uncertain significance Severe myoclonic epilepsy in infancy 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001413415 SCV001615528 likely benign Early infantile epileptic encephalopathy with suppression bursts 2020-11-27 criteria provided, single submitter clinical testing

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