ClinVar Miner

Submissions for variant NM_031418.4(ANO3):c.2817A>G (p.Pro939=)

gnomAD frequency: 0.00137  dbSNP: rs150506041
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000477318 SCV000554662 benign Dystonic disorder 2025-01-11 criteria provided, single submitter clinical testing
GeneDx RCV001692131 SCV001912295 benign not provided 2020-03-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259954 SCV002539178 benign Dystonia 24 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001692131 SCV002821620 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing ANO3: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003942505 SCV004769563 likely benign ANO3-related disorder 2020-02-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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