ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.107dup (p.Thr37fs)

gnomAD frequency: 0.00001  dbSNP: rs750941135
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665234 SCV000789319 likely pathogenic Deficiency of butyryl-CoA dehydrogenase 2017-01-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000665234 SCV001515460 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2021-09-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000665234 SCV002033234 likely pathogenic Deficiency of butyryl-CoA dehydrogenase 2021-11-07 criteria provided, single submitter clinical testing

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