ClinVar Miner

Submissions for variant NM_001985.3(ETFB):c.58-57dup

dbSNP: rs74357706
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001535408 SCV000238824 benign not provided 2018-06-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000185872 SCV000539117 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 in ESP (all): 406/12518=3.24%
SingHealth Duke-NUS Institute of Precision Medicine RCV000721998 SCV000853160 uncertain significance Multiple acyl-CoA dehydrogenase deficiency 2017-06-07 no assertion criteria provided curation

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