ClinVar Miner

Submissions for variant NM_020366.3(RPGRIP1):c.1639G>T (p.Ala547Ser) (rs10151259)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174586 SCV000225907 benign not specified 2014-06-18 criteria provided, single submitter clinical testing
GeneDx RCV000174586 SCV000514417 benign not specified 2016-10-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
GeneReviews RCV000005275 SCV000086984 pathologic Cone-rod dystrophy 13 2013-05-02 no assertion criteria provided curation Converted during submission to Pathogenic.
Illumina Clinical Services Laboratory,Illumina RCV000272533 SCV000385415 likely benign Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327555 SCV000385416 likely benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
OMIM RCV000005275 SCV000025453 pathogenic Cone-rod dystrophy 13 2003-08-01 no assertion criteria provided literature only
PreventionGenetics RCV000174586 SCV000313487 benign not specified criteria provided, single submitter clinical testing
Retina International RCV000086240 SCV000118386 not provided not provided no assertion provided not provided

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