ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.399A>C (p.Ile133=)

gnomAD frequency: 0.00010  dbSNP: rs775864936
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 RCV002112309 SCV002389868 likely benign Epilepsy, progressive myoclonic, 1B 2024-07-29 criteria provided, single submitter clinical testing

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