ClinVar Miner

Submissions for variant NM_177402.5(SYT2):c.57C>T (p.Thr19=)

gnomAD frequency: 0.00001  dbSNP: rs577256584
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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 RCV002132015 SCV002406011 benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002132015 SCV005288717 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003951101 SCV004761149 likely benign SYT2-related disorder 2022-09-19 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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