ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.1179G>T (p.Val393=)

dbSNP: rs1179626154
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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 RCV001472588 SCV001676723 likely benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2020-03-10 criteria provided, single submitter clinical testing

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