ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.-49A>G

gnomAD frequency: 0.00002  dbSNP: rs780877494
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001493136 SCV001697758 likely benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2022-08-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438610 SCV004153106 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing SYNJ1: BP4, BP7

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