ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.2529A>C (p.Pro843=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002766791 SCV003027409 likely benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2024-08-13 criteria provided, single submitter clinical testing

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