ClinVar Miner

Submissions for variant NM_198859.4(PRICKLE2):c.1098A>C (p.Ser366=)

gnomAD frequency: 0.00004  dbSNP: rs779640034
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 RCV001428318 SCV001631015 likely benign Progressive myoclonic epilepsy type 5 2024-08-14 criteria provided, single submitter clinical testing

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