ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.1143+4A>G

gnomAD frequency: 0.00001  dbSNP: rs1224302280
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002244416 SCV002513033 uncertain significance not provided 2022-04-26 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 supports a deleterious effect on splicing

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