ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.3270A>G (p.Pro1090=)

gnomAD frequency: 0.00001  dbSNP: rs1299635688
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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 RCV001410979 SCV001613035 likely benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2024-01-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003433140 SCV004153097 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing SYNJ1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003946081 SCV004764260 likely benign SYNJ1-related disorder 2019-03-29 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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