ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1545C>T (p.Ala515=) (rs150905302)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000718646 SCV000849510 likely benign Seizures 2017-05-09 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001085853 SCV001002780 benign Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000862295 SCV001144340 benign not provided 2019-04-23 criteria provided, single submitter clinical testing

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