ClinVar Miner

Submissions for variant NM_020366.3(RPGRIP1):c.3341A>G (p.Asp1114Gly) (rs17103671)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176224 SCV000227841 benign not specified 2015-02-19 criteria provided, single submitter clinical testing
GeneDx RCV000835646 SCV000977446 likely benign not provided 2018-06-20 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.
Illumina Clinical Services Laboratory,Illumina RCV000344223 SCV000385445 likely benign Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000641901 SCV000763551 benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2017-12-23 criteria provided, single submitter clinical testing
OMIM RCV000005276 SCV000025454 pathogenic Leber congenital amaurosis 6 2005-05-15 no assertion criteria provided literature only

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