ClinVar Miner

Submissions for variant NM_005881.4(BCKDK):c.717-15C>T

gnomAD frequency: 0.00072  dbSNP: rs201213741
Minimum review status: Collection method:
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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 RCV002097226 SCV002329015 likely benign Branched-chain keto acid dehydrogenase kinase deficiency 2024-12-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002097226 SCV002797478 likely benign Branched-chain keto acid dehydrogenase kinase deficiency 2021-10-13 criteria provided, single submitter clinical testing

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