ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.2656T>A (p.Phe886Ile)

gnomAD frequency: 0.00009  dbSNP: rs376514277
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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 RCV000873151 SCV001015090 likely benign Autosomal recessive limb-girdle muscular dystrophy type R18 2023-12-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002264034 SCV002544917 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing TRAPPC11: BS1
PreventionGenetics, part of Exact Sciences RCV003975446 SCV004794801 likely benign TRAPPC11-related disorder 2021-03-09 criteria provided, single submitter 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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