ClinVar Miner

Submissions for variant NM_002458.3(MUC5B):c.9850A>G (p.Thr3284Ala)

gnomAD frequency: 0.81397  dbSNP: rs2943531
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Total submissions: 3
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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 RCV000455653 SCV000539766 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
GeneDx RCV001721493 SCV001947933 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001721493 SCV005319764 benign not provided criteria provided, single submitter not provided

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