ClinVar Miner

Submissions for variant NM_016030.6(TRAPPC12):c.2157C>T (p.Val719=)

gnomAD frequency: 0.14687  dbSNP: rs13986
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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 RCV002132120 SCV002403203 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002132120 SCV005283808 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003978713 SCV004797310 benign TRAPPC12-related disorder 2019-10-21 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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