ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.3706del (p.Leu1236fs)

dbSNP: rs2136511970
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002273544 SCV002558380 likely pathogenic not provided 2022-07-27 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); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease

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