Submissions for variant NM_001244008.2(KIF1A):c.3132C>A (p.Ile1044=)

dbSNP: rs373045276

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001310790	SCV000530415	likely benign	not provided	2020-10-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000530369	SCV000638565	benign	Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9	2024-01-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311502	SCV000847163	likely benign	Inborn genetic diseases	2016-06-16	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV001310790	SCV001500728	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	KIF1A: BP4, BP7
Genetic Services Laboratory, University of Chicago	RCV001821197	SCV002067169	likely benign	not specified	2018-06-20	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848786	SCV002104849	uncertain significance	Hereditary spastic paraplegia	2021-05-18	criteria provided, single submitter	clinical testing