ClinVar Miner

Submissions for variant NM_031418.4(ANO3):c.714C>T (p.Asp238=)

gnomAD frequency: 0.00288  dbSNP: rs146532706
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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 RCV001512393 SCV001719804 benign Dystonic disorder 2024-12-02 criteria provided, single submitter clinical testing
GeneDx RCV000468030 SCV001860930 benign not provided 2020-03-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259953 SCV002539031 benign Dystonia 24 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000468030 SCV004701115 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing ANO3: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003902660 SCV004736316 benign ANO3-related disorder 2019-06-26 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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