ClinVar Miner

Submissions for variant NM_006950.3(SYN1):c.987G>A (p.Thr329=)

gnomAD frequency: 0.00008  dbSNP: rs371126022
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499927 SCV000597329 likely benign not specified 2016-06-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001471949 SCV001676072 likely benign Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 2023-07-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915394 SCV004730446 likely benign SYN1-related disorder 2019-04-05 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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