ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.3261C>T (p.Asp1087=)

gnomAD frequency: 0.00004  dbSNP: rs923667676
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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 RCV001474343 SCV001678512 likely benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2019-07-16 criteria provided, single submitter clinical testing

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