ClinVar Miner

Submissions for variant NM_000126.4(ETFA):c.6C>T (p.Phe2=) (rs749929239)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725409 SCV000336765 uncertain significance not provided 2015-11-22 criteria provided, single submitter clinical testing
GeneDx RCV000341012 SCV000724159 likely benign not specified 2017-11-09 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.
Invitae RCV001079275 SCV001015112 likely benign Multiple acyl-CoA dehydrogenase deficiency 2020-11-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272689 SCV001454938 likely benign Glutaric acidemia type 2A 2019-11-11 no assertion criteria provided clinical testing

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