ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.900C>T (p.Phe300=)

gnomAD frequency: 0.00003  dbSNP: rs150980955
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002204421 SCV002495528 likely benign Deficiency of butyryl-CoA dehydrogenase 2021-10-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003389904 SCV004132111 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing ACADS: BP4, BP7

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