ClinVar Miner

Submissions for variant NM_006612.6(KIF1C):c.1751-7T>A

gnomAD frequency: 0.00709  dbSNP: rs148404628
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441176 SCV000526186 benign not specified 2016-07-06 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 RCV000545613 SCV000645934 benign Spastic ataxia 2 2024-01-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848772 SCV002105300 benign Hereditary spastic paraplegia 2021-06-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002510890 SCV002822350 benign not provided 2024-08-01 criteria provided, single submitter clinical testing KIF1C: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV002510890 SCV005254793 benign not provided criteria provided, single submitter not provided

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