ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.2131T>C (p.Leu711=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003431460 SCV004153099 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing SYNJ1: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003778420 SCV004580376 likely benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2024-03-14 criteria provided, single submitter clinical testing

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