ClinVar Miner

Submissions for variant NM_054035.2(UNC119):c.65G>T (p.Gly22Val) (rs199714731)

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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 RCV000250269 SCV000310856 likely benign not specified criteria provided, single submitter clinical testing
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 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Mendelics RCV000074396 SCV001140329 benign Immunodeficiency 13 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000074396 SCV000106006 pathogenic Immunodeficiency 13 2012-02-09 no assertion criteria provided literature only

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