ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.1281C>T (p.Leu427=)

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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 RCV002899613 SCV003245231 likely benign Epilepsy, progressive myoclonic, 1B 2024-01-02 criteria provided, single submitter clinical testing

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