ClinVar Miner

Submissions for variant NM_001846.4(COL4A2):c.726+3A>G

dbSNP: rs2139462565
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001779747 SCV002015536 uncertain significance not provided 2021-11-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge

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