ClinVar Miner

Submissions for variant NM_198859.4(PRICKLE2):c.2172C>T (p.Asp724=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003640683 SCV004473462 likely benign Progressive myoclonic epilepsy type 5 2023-08-31 criteria provided, single submitter clinical testing

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