ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.224C>T (p.Pro75Leu)

gnomAD frequency: 0.00004  dbSNP: rs147004110
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175974 SCV000227554 uncertain significance not provided 2014-06-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000705952 SCV000834977 likely benign Episodic kinesigenic dyskinesia 2024-10-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000175974 SCV000892158 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing PRRT2: BP4, BS2

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