ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.183A>G (p.Ser61=)

gnomAD frequency: 0.00003  dbSNP: rs775396962
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644954 SCV000766680 likely benign Episodic kinesigenic dyskinesia 2023-07-04 criteria provided, single submitter clinical testing
GeneDx RCV001613421 SCV001838985 likely benign not provided 2019-04-08 criteria provided, single submitter clinical testing

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