ClinVar Miner

Submissions for variant NM_005104.4(BRD2):c.1497GGA[1] (p.Glu500del)

dbSNP: rs3918142
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594240 SCV000700606 uncertain significance not provided 2013-07-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000594240 SCV005188896 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003974974 SCV004794646 benign BRD2-related disorder 2019-04-09 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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