ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.1950C>A (p.Ile650=)

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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 RCV003028762 SCV003322216 likely benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2022-02-24 criteria provided, single submitter clinical testing

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