ClinVar Miner

Submissions for variant NM_005881.4(BCKDK):c.1104C>T (p.Phe368=)

gnomAD frequency: 0.00009  dbSNP: rs201614853
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174345 SCV000225631 uncertain significance not provided 2016-05-18 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001657946 SCV001880312 likely benign not specified 2021-03-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002516625 SCV003517630 likely benign Branched-chain keto acid dehydrogenase kinase deficiency 2024-09-14 criteria provided, single submitter clinical testing

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