ClinVar Miner

Submissions for variant NM_001291415.2(KDM6A):c.3426_3429del (p.Ser1143fs)

dbSNP: rs2045473471
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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 RCV001261237 SCV001438257 pathogenic Kabuki syndrome 2 2017-04-13 no assertion criteria provided clinical testing

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