ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.-45-4405C>T

gnomAD frequency: 0.01032  dbSNP: rs140969547
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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 RCV000454958 SCV000538786 uncertain significance 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: classification based on MAF and lack of conservation at that base
CeGaT Center for Human Genetics Tuebingen RCV003392259 SCV004130339 benign not provided 2023-06-01 criteria provided, single submitter clinical testing DICER1: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003392259 SCV005194196 uncertain significance not provided criteria provided, single submitter not provided

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