ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.2817C>T (p.Thr939=)

gnomAD frequency: 0.00001  dbSNP: rs778742385
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000912765 SCV001154331 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001415746 SCV001617912 likely benign Autosomal recessive limb-girdle muscular dystrophy type R18 2023-10-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003977986 SCV004788755 likely benign TRAPPC11-related disorder 2019-02-20 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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