ClinVar Miner

Submissions for variant NM_198859.4(PRICKLE2):c.680C>G (p.Thr227Arg)

dbSNP: rs750828226
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Personalized Medicine, Danish Epilepsy Center RCV001374404 SCV001571353 likely pathogenic See cases 2021-02-01 criteria provided, single submitter clinical testing Interpretation based on ACMG guidelines from 2015 (PS2+PM1+PM2)

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