ClinVar Miner

Submissions for variant NM_001001344.3(ATP2B3):c.1824-58G>A

gnomAD frequency: 0.43153  dbSNP: rs2239682
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001553877 SCV001774961 benign X-linked progressive cerebellar ataxia 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714281 SCV005274876 benign not provided criteria provided, single submitter not provided

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