ClinVar Miner

Submissions for variant NM_001287491.2(TET3):c.2536T>C (p.Leu846=)

gnomAD frequency: 0.39767  dbSNP: rs7560668
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001608784 SCV001833192 benign not provided 2020-12-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838697 SCV002098847 benign Beck-Fahrner syndrome 2021-09-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001608784 SCV005242974 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004551949 SCV004798852 benign TET3-related disorder 2019-10-30 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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