ClinVar Miner

Submissions for variant NM_001609.4(ACADSB):c.1129-90A>G

gnomAD frequency: 0.98353  dbSNP: rs2421166
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001549203 SCV001769314 benign Deficiency of 2-methylbutyryl-CoA dehydrogenase 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001713037 SCV001944214 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001713037 SCV005322963 benign not provided criteria provided, single submitter not provided

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