ClinVar Miner

Submissions for variant NM_006846.3(SPINK5):c.1258A>G (p.Lys420Glu) (rs2303067)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000248431 SCV000311603 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000248431 SCV000334677 benign not specified 2015-08-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299337 SCV000453755 benign Netherton syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000248431 SCV000540440 benign not specified 2016-03-28 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: Frequency. Variant questionably associated with atopic dermatitis, asthma, total serum IgE levels when maternally inherited.
OMIM RCV000005585 SCV000025767 benign SPINK5 POLYMORPHISM 2003-04-01 no assertion criteria provided literature only

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