ClinVar Miner

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

gnomAD frequency: 0.00016  dbSNP: 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,Mass General Brigham 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).
Eurofins NTD LLC (GA) RCV000724273 SCV000231926 uncertain significance not provided 2014-12-10 criteria provided, single submitter clinical testing
GeneDx RCV000724273 SCV000716238 likely benign not provided 2018-07-23 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000724273 SCV001143585 likely benign not provided 2018-11-09 criteria provided, single submitter clinical testing
Invitae RCV000724273 SCV001724548 benign not provided 2021-12-03 criteria provided, single submitter clinical testing

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