ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3137G>A (p.Gly1046Glu)

gnomAD frequency: 0.00001  dbSNP: rs773157346
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001843603 SCV002102609 uncertain significance not provided 2022-03-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001843603 SCV004525411 likely benign not provided 2024-11-16 criteria provided, single submitter clinical testing

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