ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.421T>C (p.Leu141=)

gnomAD frequency: 0.00016  dbSNP: rs140461566
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000537465 SCV000660163 likely benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2023-11-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704100 SCV005206210 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003945345 SCV004771845 likely benign SYNJ1-related disorder 2019-07-24 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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