ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.225C>T (p.Gly75=)

gnomAD frequency: 0.00006  dbSNP: rs370478896
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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252659 SCV002524034 uncertain significance See cases 2019-06-18 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003502612 SCV004274547 likely benign Deficiency of butyryl-CoA dehydrogenase 2023-07-22 criteria provided, single submitter clinical testing

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