ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.885A>G (p.Lys295=)

gnomAD frequency: 0.00001  dbSNP: rs1219063833
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001816312 SCV002064067 likely benign not provided 2021-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001869645 SCV002183572 likely benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2024-10-16 criteria provided, single submitter clinical testing

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