ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.256C>T (p.Arg86Trp)

gnomAD frequency: 0.00919  dbSNP: rs62646879
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000327868 SCV000341027 benign not specified 2016-04-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081118 SCV000641417 benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2024-01-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001112991 SCV001270714 benign Cone-rod dystrophy 13 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV001112992 SCV001270715 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000327868 SCV002103947 likely benign not specified 2022-02-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000086247 SCV003799406 benign not provided 2022-09-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000086247 SCV005218388 likely benign not provided criteria provided, single submitter not provided
Retina International RCV000086247 SCV000118393 not provided not provided no assertion provided not provided

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