ClinVar Miner

Submissions for variant NM_001080421.3(UNC13A):c.3411C>T (p.Arg1137=)

gnomAD frequency: 0.00138  dbSNP: rs371883127
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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 RCV000907769 SCV001052494 benign not provided 2017-12-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004743185 SCV005364951 likely benign UNC13A-related disorder 2024-07-15 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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