ClinVar Miner

Submissions for variant NM_019098.4(CNGB3):c.1397T>C (p.Met466Thr) (rs35010099)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000244737 SCV000313308 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000961874 SCV001108930 benign not provided 2020-12-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001162414 SCV001324365 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 RCV000498988 SCV001324366 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). 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.
Molecular Genetics Laboratory,Institute for Ophthalmic Research RCV000498988 SCV000575812 uncertain significance Achromatopsia 3 2017-03-27 no assertion criteria provided research
Natera, Inc. RCV001272738 SCV001454996 benign Achromatopsia 2020-01-06 no assertion criteria provided clinical testing

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