ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.291A>G (p.Gln97=)

gnomAD frequency: 0.00005  dbSNP: rs538869102
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001565289 SCV001788609 uncertain significance not provided 2025-01-21 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Labcorp Genetics (formerly Invitae), Labcorp RCV001565289 SCV002173991 likely benign not provided 2024-10-08 criteria provided, single submitter clinical testing

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