ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.7883A>T (p.Glu2628Val)

gnomAD frequency: 0.00019  dbSNP: rs200930248
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001771976 SCV001992846 uncertain significance not provided 2023-07-12 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Invitae RCV001771976 SCV002492350 likely benign not provided 2024-01-21 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001771976 SCV003829939 uncertain significance not provided 2020-03-30 criteria provided, single submitter clinical testing

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