ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.590A>G (p.Glu197Gly)

dbSNP: rs2123466535
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001756467 SCV001985247 uncertain significance not provided 2019-11-01 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 30919572)

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