ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.2461G>A (p.Ala821Thr)

gnomAD frequency: 0.00448  dbSNP: rs114471872
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000247359 SCV000615835 likely benign not specified 2016-12-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000534582 SCV000654278 benign Autosomal recessive limb-girdle muscular dystrophy type R18 2025-01-13 criteria provided, single submitter clinical testing
GeneDx RCV001668577 SCV001883441 likely benign not provided 2021-01-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003891964 SCV000313824 benign TRAPPC11-related disorder 2022-06-23 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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