ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1301+8G>T

dbSNP: rs532111320
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174423 SCV000225719 uncertain significance not provided 2015-02-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000556600 SCV000634045 likely benign Early infantile epileptic encephalopathy with suppression bursts 2022-03-19 criteria provided, single submitter clinical testing

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