ClinVar Miner

Submissions for variant NM_031418.4(ANO3):c.1290-5_1290-4del

dbSNP: rs202169392
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000466269 SCV000554658 benign Dystonic disorder 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001575904 SCV001802994 likely benign not provided 2021-08-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259950 SCV002539158 benign Dystonia 24 2021-12-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003912819 SCV004734241 benign ANO3-related disorder 2019-03-27 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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