ClinVar Miner

Submissions for variant NM_001609.4(ACADSB):c.1214G>A (p.Arg405Gln)

gnomAD frequency: 0.00003  dbSNP: rs755077502
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003139561 SCV003822463 uncertain significance Deficiency of 2-methylbutyryl-CoA dehydrogenase 2021-01-22 criteria provided, single submitter clinical testing

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