ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.3753T>G (p.Ser1251=)

gnomAD frequency: 0.00012  dbSNP: rs150595970
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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 RCV001394880 SCV001596571 likely benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2025-01-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001815546 SCV002064065 likely benign not provided 2021-10-01 criteria provided, single submitter clinical testing

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