ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.1434G>A (p.Leu478=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003684022 SCV004401492 likely benign not provided 2023-03-07 criteria provided, single submitter clinical testing
GeneDx RCV003684022 SCV005414557 uncertain significance not provided 2024-05-24 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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