ClinVar Miner

Submissions for variant NM_005148.3(UNC119):c.65G>T (p.Gly22Val) (rs199714731)

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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 RCV000250269 SCV000331862 benign not specified 2015-07-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000316267 SCV000401527 likely benign Cone-Rod Dystrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
OMIM RCV000074396 SCV000106006 pathogenic Immunodeficiency 13 2012-02-09 no assertion criteria provided literature only
PreventionGenetics RCV000250269 SCV000310856 likely benign not specified criteria provided, single submitter clinical testing

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