ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.1569C>T (p.Asn523=)

gnomAD frequency: 0.00467  dbSNP: rs61752503
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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) RCV000393061 SCV000336649 likely benign not specified 2015-10-29 criteria provided, single submitter clinical testing
Invitae RCV000964405 SCV001111607 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001139696 SCV001299877 uncertain significance 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. 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.
GeneDx RCV000964405 SCV001757386 likely benign not provided 2019-01-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15712225)
CeGaT Center for Human Genetics Tuebingen RCV000964405 SCV004148877 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing CNGA3: BP4, BP7, BS2

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