ClinVar Miner

Submissions for variant NM_001160179.2(NAT1):c.445G>A (p.Val149Ile)

gnomAD frequency: 0.02032  dbSNP: rs4987076
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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 RCV000455973 SCV000539861 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
Breakthrough Genomics, Breakthrough Genomics RCV004712000 SCV005266002 benign not provided criteria provided, single submitter not provided
OMIM RCV000019386 SCV000039676 other NAT1*17 ALLELE 2016-04-20 no assertion criteria provided literature only

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