ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.2899-9del (rs397517477)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039833 SCV000063524 benign not specified 2013-03-01 criteria provided, single submitter clinical testing c.2899-9delT in intron 39 of COL11A2: This variant is not expected to have clini cal significance because does not alter an amino acid residue, is not in the inv ariant -1/-2 positions of the splice consensus sequence, and has been identified in 1% (31/3296) of African Americans by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS/).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000039833 SCV000230528 benign not specified 2015-02-26 criteria provided, single submitter clinical testing
GeneDx RCV000039833 SCV000572285 likely benign not specified 2017-08-28 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 RCV001509763 SCV001716634 benign not provided 2020-11-18 criteria provided, single submitter clinical testing

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