ClinVar Miner

Submissions for variant NM_000433.3(NCF2):c.1183C>T (p.Arg395Trp) (rs13306575)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000597800 SCV000701094 benign not specified 2016-11-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407030 SCV000351758 likely benign Chronic granulomatous disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000002336 SCV000641905 benign Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 2017-06-30 criteria provided, single submitter clinical testing
OMIM RCV000002336 SCV000022494 pathogenic Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 1999-10-01 no assertion criteria provided literature only

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