ClinVar Miner

Submissions for variant NM_001001344.3(ATP2B3):c.1473A>G (p.Gly491=)

gnomAD frequency: 0.99114  dbSNP: rs3020949
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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 RCV000615988 SCV001774960 benign X-linked progressive cerebellar ataxia 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001712718 SCV001944556 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001712718 SCV005274874 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000615988 SCV000734751 benign X-linked progressive cerebellar ataxia no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727780 SCV001973999 benign not specified no assertion criteria provided clinical testing

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