ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.1440G>C (p.Leu480=)

dbSNP: rs367822804
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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 RCV001414763 SCV001616906 likely benign Epilepsy, progressive myoclonic, 1B 2023-09-22 criteria provided, single submitter clinical testing

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