ClinVar Miner

Submissions for variant NM_004975.4(KCNB1):c.1926C>T (p.Pro642=)

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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 RCV003588032 SCV004334102 likely benign Developmental and epileptic encephalopathy, 26 2024-11-27 criteria provided, single submitter clinical testing

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