ClinVar Miner

Submissions for variant NM_019098.4(CNGB3):c.2415A>C (p.Glu805Asp) (rs186448979)

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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 RCV000245417 SCV000202502 benign not specified 2016-11-29 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000245417 SCV000313314 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000885622 SCV001029083 benign not provided 2020-12-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001160702 SCV001322524 uncertain significance Stargardt disease 1 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001160703 SCV001322525 likely benign Achromatopsia 3 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.
Natera, Inc. RCV001276120 SCV001461971 benign Achromatopsia 2020-01-09 no assertion criteria provided clinical testing

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