ClinVar Miner

Submissions for variant NM_012281.3(KCND2):c.546G>T (p.Thr182=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005127292 SCV005760030 likely benign Early myoclonic encephalopathy 2024-06-12 criteria provided, single submitter clinical testing

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