ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.*4G>A

gnomAD frequency: 0.00158  dbSNP: rs115648918
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000541804 SCV000660152 likely benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001584365 SCV001820858 likely benign not provided 2021-03-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27393345)
Breakthrough Genomics, Breakthrough Genomics RCV001584365 SCV005206194 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003915657 SCV004736036 likely benign SYNJ1-related disorder 2023-11-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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