ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.1959T>G (p.Val653=)

gnomAD frequency: 0.00002  dbSNP: rs747138067
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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 RCV002113548 SCV002408508 likely benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2025-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438947 SCV004153100 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing SYNJ1: BP4, BP7

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