ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.3762C>T (p.Pro1254=)

gnomAD frequency: 0.00009  dbSNP: rs201117151
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000524929 SCV000660151 likely benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2023-08-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884644 SCV004701240 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing SYNJ1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003925744 SCV004750604 likely benign SYNJ1-related disorder 2019-04-12 criteria provided, single submitter 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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