ClinVar Miner

Submissions for variant NM_005881.4(BCKDK):c.845+10C>T

gnomAD frequency: 0.00955  dbSNP: rs74015068
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000116492 SCV000311288 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711444 SCV000841811 benign not provided 2017-08-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086976 SCV001107505 benign Branched-chain keto acid dehydrogenase kinase deficiency 2025-01-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116492 SCV000150429 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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