ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.931C>G (p.Leu311Val)

gnomAD frequency: 0.00057  dbSNP: rs148833310
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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 RCV000538180 SCV000615842 uncertain significance not provided 2022-05-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084206 SCV000654304 likely benign Autosomal recessive limb-girdle muscular dystrophy type R18 2024-01-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000538180 SCV001154325 uncertain significance not provided 2021-06-01 criteria provided, single submitter clinical testing
GeneDx RCV000538180 SCV001776569 uncertain significance not provided 2024-06-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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