ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3069A>G (p.Ala1023=)

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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 RCV002880708 SCV003234854 likely benign not provided 2023-04-09 criteria provided, single submitter clinical testing
GeneDx RCV002880708 SCV004169612 uncertain significance not provided 2023-05-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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