ClinVar Miner

Submissions for variant NM_197947.3(CLEC7A):c.714T>G (p.Tyr238Ter) (rs16910526)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000455914 SCV000538696 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
Mendelics RCV000004721 SCV001138646 benign Familial chronic mucocutaneous candidiasis 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000004721 SCV000024896 pathogenic Familial chronic mucocutaneous candidiasis 2010-12-09 no assertion criteria provided literature only
OMIM RCV000023528 SCV000044819 risk factor Aspergillosis, susceptibility to 2010-12-09 no assertion criteria provided literature only

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