ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.1397T>C (p.Met466Thr)

gnomAD frequency: 0.00978  dbSNP: rs35010099
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244737 SCV000313308 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000961874 SCV001108930 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001162414 SCV001324365 benign Severe early-childhood-onset retinal dystrophy 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 Laboratory Services, 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.
Breakthrough Genomics, Breakthrough Genomics RCV000961874 SCV005271406 benign not provided criteria provided, single submitter not provided
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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