ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4724G>A (p.Arg1575His) (rs368834365)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000731424 SCV000242603 benign not provided 2019-01-07 criteria provided, single submitter clinical testing
Invitae RCV000731424 SCV000559702 likely benign not provided 2019-02-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000188972 SCV000615038 benign not specified 2017-07-25 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000731424 SCV000859241 uncertain significance not provided 2018-01-29 criteria provided, single submitter clinical testing
Invitae RCV001393461 SCV001595123 likely benign Early infantile epileptic encephalopathy with suppression bursts 2020-11-15 criteria provided, single submitter clinical testing

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