ClinVar Miner

Submissions for variant NM_000126.3(ETFA):c.512C>T (p.Thr171Ile) (rs1801591)

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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 RCV000078134 SCV000109972 benign not specified 2013-03-08 criteria provided, single submitter clinical testing
GeneDx RCV000078134 SCV000168349 benign not specified 2012-04-24 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 Clinical Services Laboratory,Illumina RCV000377415 SCV000393971 likely benign Glutaric aciduria, type 2 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676979 SCV000802806 benign not provided 2016-02-15 no assertion criteria provided clinical testing

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