ClinVar Miner

Submissions for variant NM_000701.8(ATP1A1):c.1024-64G>A

gnomAD frequency: 0.07904  dbSNP: rs41464748
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001708639 SCV001935918 benign not provided 2021-05-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260368 SCV002539646 benign Charcot-Marie-tooth disease, axonal, type 2DD 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260369 SCV002539647 benign Hypomagnesemia, seizures, and intellectual disability 2 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001708639 SCV005280545 benign not provided criteria provided, single submitter not provided

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