ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1218-12dup

dbSNP: rs761233540
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000827933 SCV000969604 likely benign not provided 2022-06-08 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Invitae RCV002538266 SCV003267265 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-02 criteria provided, single submitter clinical testing

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