ClinVar Miner

Submissions for variant NM_014297.5(ETHE1):c.-47C>T

gnomAD frequency: 0.00001  dbSNP: rs368890798
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124923 SCV000168363 benign not specified 2013-03-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Laboratory Services, Illumina RCV000390869 SCV000413499 uncertain significance Ethylmalonic encephalopathy 2016-06-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000390869 SCV001454619 benign Ethylmalonic encephalopathy 2020-09-16 no assertion criteria provided clinical testing

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