ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.99C>T (p.Tyr33=)

gnomAD frequency: 0.00002  dbSNP: rs764986581
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000866991 SCV001008171 likely benign Epilepsy, progressive myoclonic, 1B 2025-01-12 criteria provided, single submitter clinical testing

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