ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.1090G>A (p.Asp364Asn)

dbSNP: rs1060499715
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000449516 SCV000537821 likely pathogenic Maple syrup urine disease no assertion criteria provided clinical testing

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