ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.1115T>C (p.Leu372Pro)

dbSNP: rs2052246987
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001258334 SCV001435300 uncertain significance Hereditary spastic paraplegia 30 2020-07-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847215 SCV002104816 likely pathogenic Hereditary spastic paraplegia 2019-06-01 criteria provided, single submitter clinical testing

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