ClinVar Miner

Submissions for variant NM_012092.4(ICOS):c.129A>T (p.Lys43Asn)

dbSNP: rs1690065667
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332934 SCV001525378 uncertain significance Immunodeficiency, common variable, 1 2019-12-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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