ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.1953G>C (p.Pro651=)

gnomAD frequency: 0.00001  dbSNP: rs766992928
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 RCV001440188 SCV001643092 likely benign Epilepsy, progressive myoclonic, 1B 2024-10-29 criteria provided, single submitter clinical testing

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