ClinVar Miner

Submissions for variant NM_031418.4(ANO3):c.1290-56T>C

gnomAD frequency: 0.65571  dbSNP: rs395770
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001707274 SCV001935428 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260372 SCV002539149 benign Dystonia 24 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001707274 SCV005317879 benign not provided criteria provided, single submitter not provided

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