ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.4863+7G>A (rs200947059)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155699 SCV000205409 benign not specified 2017-07-27 criteria provided, single submitter clinical testing c.4863+7G>A in intron 64 of COL11A2: This variant is not expected to have clinic al significance because it is not located within the conserved splice consensus sequence. It has been identified in 1% (259/ 25154) of Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs 200947059).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724273 SCV000231926 uncertain significance not provided 2014-12-10 criteria provided, single submitter clinical testing
GeneDx RCV000155699 SCV000716238 likely benign not specified 2018-01-08 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.
Athena Diagnostics Inc RCV000724273 SCV001143585 likely benign not provided 2018-11-09 criteria provided, single submitter clinical testing
Invitae RCV000724273 SCV001724548 benign not provided 2020-12-04 criteria provided, single submitter clinical testing

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