ClinVar Miner

Submissions for variant NM_031418.4(ANO3):c.1290-25G>T

gnomAD frequency: 0.42354  dbSNP: rs56104576
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 RCV001694784 SCV001910766 benign not provided 2019-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260339 SCV002539150 benign Dystonia 24 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001694784 SCV005317880 benign not provided criteria provided, single submitter not provided

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