ClinVar Miner

Submissions for variant NM_020366.3(RPGRIP1):c.3097G>C (p.Glu1033Gln) (rs3748361)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000248391 SCV000313492 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283678 SCV000385441 benign Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000343428 SCV000385442 benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000248391 SCV000701659 benign not specified 2016-10-03 criteria provided, single submitter clinical testing

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