ClinVar Miner

Submissions for variant NM_001001344.3(ATP2B3):c.2839+14G>T

gnomAD frequency: 0.88308  dbSNP: rs3020959
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV000601168 SCV001775044 benign X-linked progressive cerebellar ataxia 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001613405 SCV001836893 benign not provided 2018-10-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001613405 SCV005274880 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000601168 SCV000734754 benign X-linked progressive cerebellar ataxia no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726273 SCV001965620 benign not specified no assertion criteria provided clinical testing

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