ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5136+114G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004794871 SCV005414695 uncertain significance not provided 2024-05-24 criteria provided, single submitter clinical testing Reported using an alternate transcript of the gene; 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 supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 22696272)

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