ClinVar Miner

Submissions for variant NM_002458.3(MUC5B):c.576+9G>T

gnomAD frequency: 0.02381  dbSNP: rs56394097
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Total submissions: 2
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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 RCV000151036 SCV000198772 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 576+9G>T in intron 5 of MUC5B: This variant is not expected to have clinical sig nificance because it is not located within the conserved splice consensus sequen ce. It has been identified in 3.2% (268/8278) of European American chromosomes f rom a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wash ington.edu/EVS; dbSNP rs56394097).
Breakthrough Genomics, Breakthrough Genomics RCV004718047 SCV005319677 benign not provided criteria provided, single submitter not provided

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