ClinVar Miner

Submissions for variant NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) (rs231775)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000455037 SCV000538749 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: MAF
OMIM RCV000018423 SCV000038705 risk factor Hashimoto thyroiditis, susceptibility to 2005-04-01 no assertion criteria provided literature only
OMIM RCV000018424 SCV000038706 risk factor Thyroid-associated orbitopathy, susceptibility to 2005-04-01 no assertion criteria provided literature only
OMIM RCV000018425 SCV000038707 risk factor Systemic lupus erythematosus, susceptibility to 2005-04-01 no assertion criteria provided literature only
OMIM RCV000018426 SCV000038708 risk factor Diabetes mellitus, insulin-dependent, susceptibility to 2005-04-01 no assertion criteria provided literature only
OMIM RCV000018427 SCV000038709 risk factor Celiac disease 3 2005-04-01 no assertion criteria provided literature only

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