ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.739G>A (p.Val247Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003133875 SCV003814540 uncertain significance not provided 2020-04-04 criteria provided, single submitter clinical testing
Solve-RD Consortium RCV004765757 SCV005091534 likely pathogenic Hereditary spastic paraplegia 30 2022-06-01 no assertion criteria provided provider interpretation Variant confirmed as disease-causing by referring clinical team

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