ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.1119-8G>T

gnomAD frequency: 0.00429  dbSNP: rs138882423
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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 RCV000548562 SCV000660124 benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2025-02-02 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001288849 SCV001476239 benign not specified 2020-08-10 criteria provided, single submitter clinical testing
GeneDx RCV001595020 SCV001829660 benign not provided 2021-09-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915655 SCV004729182 benign SYNJ1-related disorder 2019-06-26 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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