ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.*801A>G

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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 RCV003075353 SCV003469037 likely benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2023-02-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003434564 SCV004153090 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing SYNJ1: BP4, BP7

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