ClinVar Miner

Submissions for variant NM_198859.4(PRICKLE2):c.1621C>A (p.Arg541=)

gnomAD frequency: 0.00001  dbSNP: rs372400638
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 RCV002107430 SCV002391137 likely benign Progressive myoclonic epilepsy type 5 2023-07-19 criteria provided, single submitter clinical testing

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