ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1493G>A (p.Arg498His)

gnomAD frequency: 0.00001  dbSNP: rs545363972
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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 RCV001360300 SCV001556213 benign not provided 2023-12-09 criteria provided, single submitter clinical testing
GeneDx RCV001360300 SCV001780059 uncertain significance not provided 2024-06-27 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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