ClinVar Miner

Submissions for variant NM_000126.4(ETFA):c.442A>G (p.Ile148Val)

gnomAD frequency: 0.00006  dbSNP: rs199673198
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224700 SCV000281382 uncertain significance not provided 2015-08-26 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001081384 SCV001079024 likely benign Multiple acyl-CoA dehydrogenase deficiency 2024-07-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272688 SCV001454937 benign Glutaric acidemia type 2A 2019-10-28 no assertion criteria provided clinical testing

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