ClinVar Miner

Submissions for variant NM_031418.4(ANO3):c.2657+44A>T

gnomAD frequency: 0.02323  dbSNP: rs72881793
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001538137 SCV001755745 likely benign not provided 2018-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260182 SCV002539175 benign Dystonia 24 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001538137 SCV005224162 likely benign not provided criteria provided, single submitter not provided

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