ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.1767G>T (p.Gln589His)

gnomAD frequency: 0.00344  dbSNP: rs34067949
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434906 SCV000521208 benign not specified 2016-12-06 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.
Eurofins Ntd Llc (ga) RCV000434906 SCV000701599 benign not specified 2016-12-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000761865 SCV000892079 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing RPGRIP1: BS2
Invitae RCV001082360 SCV001097957 benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2024-01-17 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001111170 SCV001268693 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV001111171 SCV001268694 likely 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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