ClinVar Miner

Submissions for variant NM_006612.6(KIF1C):c.1365C>T (p.Asn455=)

gnomAD frequency: 0.00009  dbSNP: rs142825776
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421127 SCV000527089 likely benign not specified 2016-05-02 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.
CeGaT Center for Human Genetics Tuebingen RCV001311102 SCV001501147 likely benign not provided 2021-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001451575 SCV001655209 likely benign Spastic ataxia 2 2023-07-10 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848778 SCV002105292 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing

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