ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.1025G>C (p.Ser342Thr)

gnomAD frequency: 0.00001  dbSNP: rs759040971
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Natera, Inc. RCV001280522 SCV001467706 uncertain significance Maple syrup urine disease type 1B 2020-08-13 no assertion criteria provided clinical testing

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