ClinVar Miner

Submissions for variant NM_031418.4(ANO3):c.977-80T>C

gnomAD frequency: 0.10163  dbSNP: rs375562
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001540540 SCV001758434 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260190 SCV002539099 benign Dystonia 24 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001540540 SCV005317870 benign not provided criteria provided, single submitter not provided

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