ClinVar Miner

Submissions for variant NM_001001344.3(ATP2B3):c.2592G>C (p.Val864=)

gnomAD frequency: 0.41962  dbSNP: rs2269415
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV000612702 SCV001774963 benign X-linked progressive cerebellar ataxia 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714101 SCV005274879 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000612702 SCV000734753 benign X-linked progressive cerebellar ataxia no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727782 SCV001970746 benign not specified no assertion criteria provided clinical testing

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