ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.3639G>A (p.Arg1213=)

gnomAD frequency: 0.00001  dbSNP: rs745882722
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002201314 SCV002484697 likely benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2024-02-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004572079 SCV005051612 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing SYNJ1: BP4, BP7

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