ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.3606C>T (p.Asp1202=) (rs140628824)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703806 SCV000523793 likely benign not provided 2020-09-01 criteria provided, single submitter clinical testing
Invitae RCV000650663 SCV000772510 benign Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2020-10-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720757 SCV000851638 likely benign Seizures 2017-03-30 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000439653 SCV000859380 likely benign not specified 2018-02-10 criteria provided, single submitter clinical testing

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