ClinVar Miner

Submissions for variant NM_031418.4(ANO3):c.2142-49A>G

gnomAD frequency: 0.37272  dbSNP: rs10835040
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001530665 SCV001745552 benign not provided 2018-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260174 SCV002539171 benign Dystonia 24 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001530665 SCV005323005 benign not provided criteria provided, single submitter not provided

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