ClinVar Miner

Submissions for variant NM_019098.4(CNGB3):c.2159A>G (p.Gln720Arg) (rs112573107)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000933583 SCV001079285 likely benign not provided 2020-11-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001162312 SCV001324261 uncertain significance 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001162313 SCV001324262 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Natera, Inc. RCV001276124 SCV001461975 uncertain significance Achromatopsia 2019-11-11 no assertion criteria provided clinical testing

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