ClinVar Miner

Submissions for variant NM_006612.6(KIF1C):c.1656A>G (p.Pro552=)

gnomAD frequency: 0.03773  dbSNP: rs57144955
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419092 SCV000529925 benign not specified 2016-08-16 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000530891 SCV000645933 benign Spastic ataxia 2 2024-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848783 SCV002105296 benign Hereditary spastic paraplegia 2022-01-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710029 SCV005254791 benign not provided criteria provided, single submitter not provided

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