ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2755-2A>G

dbSNP: rs2101653580
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001581183 SCV001813751 pathogenic not provided 2021-04-02 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 33494148)
Genomics England Pilot Project, Genomics England RCV001542538 SCV001759974 likely pathogenic Stickler syndrome type 2 no assertion criteria provided clinical testing

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