ClinVar Miner

Submissions for variant NM_004984.4(KIF5A):c.820-19G>T

gnomAD frequency: 0.00736  dbSNP: rs181688415
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439413 SCV000522840 benign not specified 2016-01-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513769 SCV000609837 likely benign not provided 2017-09-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001517822 SCV001726399 benign Spastic paraplegia 2024-02-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000513769 SCV002047960 benign not provided 2023-11-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000513769 SCV005216021 likely benign not provided criteria provided, single submitter not provided

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