ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2722G>A (p.Gly908Ser)

gnomAD frequency: 0.00002  dbSNP: rs758953085
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001769099 SCV002003172 uncertain significance not provided 2024-03-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001769099 SCV002245400 benign not provided 2023-05-22 criteria provided, single submitter clinical testing

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