ClinVar Miner

Submissions for variant NM_031418.4(ANO3):c.738-50T>C

gnomAD frequency: 0.98729  dbSNP: rs293937
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001682417 SCV001905195 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260333 SCV002539064 benign Dystonia 24 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001682417 SCV005317867 benign not provided criteria provided, single submitter not provided

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