ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3600+8G>A

gnomAD frequency: 0.00006  dbSNP: rs188045535
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419179 SCV000524332 likely benign not specified 2016-11-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002062645 SCV002464388 likely benign not provided 2024-01-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002062645 SCV002821408 uncertain significance not provided 2022-11-01 criteria provided, single submitter clinical testing COL11A1: PM2, BP4

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