ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.1179-6T>C

gnomAD frequency: 0.00352  dbSNP: rs114127590
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000904663 SCV001049190 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825820 SCV002076080 likely benign Achromatopsia 2019-10-22 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004531039 SCV004734862 benign CNGB3-related disorder 2019-10-25 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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