ClinVar Miner

Submissions for variant NM_005149.3(TBX19):c.562G>A (p.Glu188Lys)

dbSNP: rs1159356681
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000678896 SCV000805090 uncertain significance Congenital isolated adrenocorticotropic hormone deficiency 2011-11-01 no assertion criteria provided clinical testing

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