ClinVar Miner

Submissions for variant NM_012310.5(KIF4A):c.1553G>C (p.Arg518Pro)

dbSNP: rs766819113
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626907 SCV000747610 uncertain significance Obesity; Sleep abnormality; Pes planus; Delayed speech and language development; Horizontal nystagmus; Gynecomastia; Generalized hypotonia; Poor motor coordination; Difficulty walking; Hypotonia 2017-01-01 criteria provided, single submitter clinical testing

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