ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.*75A>G

gnomAD frequency: 0.00001  dbSNP: rs756090874
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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 RCV001483430 SCV001687822 likely benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2022-11-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438826 SCV004153096 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing SYNJ1: BP4, BP7

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