ClinVar Miner

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

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Total submissions: 6
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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
Illumina Clinical Services Laboratory,Illumina RCV000005276 SCV000385445 likely benign Leber congenital amaurosis 6 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV001083379 SCV000763551 benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2019-12-31 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000176224 SCV001159331 benign not specified 2018-07-05 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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