ClinVar Miner

Submissions for variant NM_020366.3(RPGRIP1):c.2417C>T (p.Thr806Ile) (rs142796310)

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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 RCV000596058 SCV000702121 benign not specified 2016-10-17 criteria provided, single submitter clinical testing
Invitae RCV000878023 SCV001020863 benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000989174 SCV001139394 benign Leber congenital amaurosis 1 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000596058 SCV001159309 benign not specified 2018-07-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001110508 SCV001267957 benign Cone-rod dystrophy 13 2017-10-10 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.
Illumina Clinical Services Laboratory,Illumina RCV001110509 SCV001267958 benign Leber congenital amaurosis 6 2017-10-10 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.

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