ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2344_2352del (p.Glu782_Gly784del)

dbSNP: rs2101750401
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001779393 SCV002014735 uncertain significance Marshall syndrome 2021-10-25 criteria provided, single submitter clinical testing Inframe deletion located in a nonrepeat region: predicted to change the length of the protein and disrupt normal protein function (PM4). It is not observed in the gnomAD v2.1.1 dataset (PM2).

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