ClinVar Miner

Submissions for variant NM_005546.4(ITK):c.719A>G (p.Tyr240Cys)

dbSNP: rs1754673755
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini RCV001267766 SCV001424082 uncertain significance Lymphoproliferative syndrome 1 2020-05-21 no assertion criteria provided clinical testing

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