ClinVar Miner

Submissions for variant NM_001918.4(DBT):c.1150G>A (p.Gly384Ser) (rs12021720)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532824 SCV000627806 benign Maple syrup urine disease 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000012727 SCV000032962 pathogenic Intermediate maple syrup urine disease type 2 1998-01-01 no assertion criteria provided literature only
SingHealth Duke-NUS Institute of Precision Medicine RCV000532824 SCV000853182 benign Maple syrup urine disease 2017-06-07 no assertion criteria provided curation

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