ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1853G>A (p.Arg618Gln)

gnomAD frequency: 0.00007  dbSNP: rs192313594
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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 RCV001303611 SCV001492860 benign not provided 2023-12-06 criteria provided, single submitter clinical testing
GeneDx RCV001303611 SCV001782769 uncertain significance not provided 2024-02-27 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

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