ClinVar Miner

Submissions for variant NM_000126.4(ETFA):c.423T>C (p.Pro141=)

dbSNP: rs2141533520
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001417189 SCV001619386 likely benign Multiple acyl-CoA dehydrogenase deficiency 2022-02-25 criteria provided, single submitter clinical testing

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