ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.2382T>C (p.Tyr794=)

dbSNP: rs538043977
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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 RCV001394686 SCV001596376 likely benign Epilepsy, progressive myoclonic, 1B 2024-10-15 criteria provided, single submitter clinical testing

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