ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.1707T>G (p.Ala569=)

gnomAD frequency: 0.00002  dbSNP: rs1384171922
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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 RCV000891130 SCV001034920 likely benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2024-01-16 criteria provided, single submitter clinical testing

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