ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.1793G>A (p.Arg598Gln)

gnomAD frequency: 0.01504  dbSNP: rs74034910
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224456 SCV000281341 benign not provided 2016-05-19 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000384176 SCV000342674 benign not specified 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001083621 SCV001020571 benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2024-01-23 criteria provided, single submitter clinical testing
Mendelics RCV000989172 SCV001139392 benign Leber congenital amaurosis 1 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001111172 SCV001268695 benign Cone-rod dystrophy 13 2017-04-28 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 RCV001111173 SCV001268696 benign Leber congenital amaurosis 6 2017-04-28 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 RCV000384176 SCV002103948 likely benign not specified 2022-02-18 criteria provided, single submitter clinical testing

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