ClinVar Miner

Submissions for variant NM_019098.4(CNGB3):c.354G>T (p.Pro118=) (rs75858066)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000242350 SCV000313316 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000961891 SCV001108947 benign not provided 2020-12-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001161026 SCV001322869 benign Stargardt disease 1 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 Clinical Services Laboratory,Illumina RCV001161027 SCV001322870 benign Achromatopsia 3 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.
Natera, Inc. RCV001272491 SCV001454559 benign Achromatopsia 2020-09-16 no assertion criteria provided clinical testing

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