ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.747A>G (p.Glu249=)

dbSNP: rs764125560
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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 RCV002181459 SCV002484195 likely benign Maple syrup urine disease 2021-06-16 criteria provided, single submitter clinical testing

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