ClinVar Miner

Submissions for variant NM_000126.4(ETFA):c.882+9A>G

gnomAD frequency: 0.00002  dbSNP: rs373161597
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001480517 SCV001684836 likely benign Multiple acyl-CoA dehydrogenase deficiency 2018-04-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272687 SCV001454934 uncertain significance Glutaric acidemia type 2A 2020-03-10 no assertion criteria provided clinical testing

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