ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.1208G>A (p.Ser403Asn)

gnomAD frequency: 0.00001  dbSNP: rs761391260
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000445245 SCV000534997 uncertain significance not provided 2019-05-28 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV003138008 SCV003823428 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type R18 2021-09-02 criteria provided, single submitter clinical testing

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