ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.2217C>T (p.Asn739=)

gnomAD frequency: 0.00004  dbSNP: rs753774552
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001501400 SCV001706211 likely benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2023-12-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003966026 SCV004777651 likely benign SYNJ1-related disorder 2019-09-09 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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