ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.423C>T (p.Phe141=)

gnomAD frequency: 0.00001  dbSNP: rs746728526
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 RCV000646051 SCV000767808 likely benign Epilepsy, progressive myoclonic, 1B 2024-05-06 criteria provided, single submitter clinical testing

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