ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.588+10del

dbSNP: rs766626651
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000615834 SCV000720728 likely benign not specified 2017-06-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001482985 SCV001687366 likely benign Epilepsy, progressive myoclonic, 1B 2023-04-04 criteria provided, single submitter clinical testing

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