ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.2260-1G>A

dbSNP: rs1322829123
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002275755 SCV002562339 likely pathogenic not provided 2022-08-09 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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