ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2246C>T (p.Pro749Leu)

gnomAD frequency: 0.00006  dbSNP: rs776773238
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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 RCV001337417 SCV001531020 benign not provided 2023-10-23 criteria provided, single submitter clinical testing
GeneDx RCV001337417 SCV004036279 uncertain significance not provided 2023-03-21 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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