ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.612A>C (p.Thr204=)

gnomAD frequency: 0.00003  dbSNP: rs755994241
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 RCV002211910 SCV002354147 likely benign Epilepsy, progressive myoclonic, 1B 2023-06-05 criteria provided, single submitter clinical testing

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