ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.5120G>A (p.Arg1707Gln)

gnomAD frequency: 0.00001  dbSNP: rs751989395
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002278860 SCV002567229 uncertain significance not provided 2022-02-17 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 does not alter protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Stenson et al., 2014; Acke et al., 2014)
Labcorp Genetics (formerly Invitae), Labcorp RCV002278860 SCV003028197 benign not provided 2024-01-29 criteria provided, single submitter clinical testing

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