ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.635A>G (p.Asn212Ser)

gnomAD frequency: 0.00026  dbSNP: rs779020826
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000468258 SCV000541960 likely benign Episodic kinesigenic dyskinesia 2025-01-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765286 SCV000896540 uncertain significance Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1; Infantile convulsions and choreoathetosis 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884544 SCV004698964 uncertain significance not provided 2023-12-01 criteria provided, single submitter clinical testing PRRT2: PM2

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