ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.652del (p.Gln218fs)

dbSNP: rs1936760837
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Autoinflammatory diseases unit, CHU de Montpellier RCV001261282 SCV001438267 pathogenic KBG syndrome 2015-06-11 no assertion criteria provided clinical testing

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