ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.740C>T (p.Thr247Met)

gnomAD frequency: 0.00158  dbSNP: rs148616345
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180215 SCV000232610 uncertain significance not provided 2015-03-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000180215 SCV000892575 uncertain significance not provided 2018-07-01 criteria provided, single submitter clinical testing
Invitae RCV000180215 SCV001031226 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001137480 SCV001297425 likely benign Achromatopsia 2 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). 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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