ClinVar Miner

Submissions for variant NM_018075.5(ANO10):c.1915-5816C>A

gnomAD frequency: 0.00245  dbSNP: rs146629436
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000487775 SCV000575349 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing ANO10: BP4, BS2
Athena Diagnostics RCV000487775 SCV000612344 likely benign not provided 2020-07-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942605 SCV004761942 benign ANO10-related disorder 2019-10-08 criteria provided, single submitter 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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