ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.*552G>A

gnomAD frequency: 0.00064  dbSNP: rs146425050
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544822 SCV000660158 likely benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2024-01-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001171960 SCV001334877 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing SYNJ1: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001171960 SCV001932028 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001171960 SCV001963687 likely benign not provided no assertion criteria provided clinical testing

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