ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.840+10A>G

gnomAD frequency: 0.00008  dbSNP: rs561940940
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001459643 SCV001663491 likely benign Maple syrup urine disease 2024-04-24 criteria provided, single submitter clinical testing

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