ClinVar Miner

Submissions for variant NM_005546.4(ITK):c.1573G>A (p.Ala525Thr)

gnomAD frequency: 0.00001  dbSNP: rs753217800
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331416 SCV001523450 uncertain significance Lymphoproliferative syndrome 1 2020-05-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic RCV004793433 SCV005411936 uncertain significance not provided 2023-11-15 criteria provided, single submitter clinical testing BP4

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