ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.6G>A (p.Ala2=)

gnomAD frequency: 0.00452  dbSNP: rs61750221
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001086325 SCV000660125 benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2025-02-04 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713724 SCV000844351 benign not provided 2018-03-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000713724 SCV001153548 benign not provided 2025-03-01 criteria provided, single submitter clinical testing SYNJ1: BP4, BP7, BS1, BS2
GeneDx RCV000713724 SCV001789892 likely benign not provided 2021-02-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001086325 SCV002794828 likely benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2022-02-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000713724 SCV005206211 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003935564 SCV004748940 benign SYNJ1-related disorder 2020-01-22 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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