ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.458C>T (p.Thr153Met)

gnomAD frequency: 0.00836  dbSNP: rs34314205
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000382107 SCV000338220 benign not specified 2016-01-27 criteria provided, single submitter clinical testing
Invitae RCV000948604 SCV001094820 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001140364 SCV001300615 benign Achromatopsia 2 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. 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.
GeneDx RCV000948604 SCV002504272 likely benign not provided 2021-01-06 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen RCV000948604 SCV002585801 benign not provided 2023-02-01 criteria provided, single submitter clinical testing CNGA3: BS1, BS2

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