ClinVar Miner

Submissions for variant NM_004522.3(KIF5C):c.838C>A (p.Arg280=)

gnomAD frequency: 0.00443  dbSNP: rs114454143
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001671706 SCV001889849 benign not provided 2018-09-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003921323 SCV004736724 benign KIF5C-related disorder 2021-06-30 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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