ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.610-17_617del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001543669 SCV001762356 likely pathogenic Stickler syndrome type 1 2021-07-27 criteria provided, single submitter clinical testing COL2A1 c.610-17_617del is absent from a large population dataset and has not been reported in ClinVar nor the literature, to our knowledge. This variant deletes the native acceptor (3') splice site for exon 9 and is predicted to cause aberrant mRNA splicing. We consider COL2A1 c.610-17_617del to be likely pathogenic.

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