ClinVar Miner

Submissions for variant NM_024662.3(NAT10):c.1686C>T (p.Pro562=)

gnomAD frequency: 0.86103  dbSNP: rs2957518
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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 RCV000454708 SCV000539862 benign not specified 2016-03-29 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 RCV004718677 SCV005316038 benign not provided criteria provided, single submitter not provided

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