Submissions for variant NM_006612.6(KIF1C):c.2299G>A (p.Gly767Arg)

gnomAD frequency: 0.00157  dbSNP: rs118037269

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Unit for Genetic & Epidemiological Research on Neurological Disorders, Instituto de Investigação e Inovação em Saúde	RCV000516023	SCV000574484	uncertain significance	Hereditary spastic paraplegia	2017-03-07	criteria provided, single submitter	research
GeneDx	RCV000645370	SCV000713914	likely benign	not provided	2023-06-18	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085955	SCV000767115	likely benign	Spastic ataxia 2	2023-12-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000645370	SCV001151168	uncertain significance	not provided	2016-06-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV000516023	SCV002105314	likely benign	Hereditary spastic paraplegia	2020-11-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003915341	SCV004734496	likely benign	KIF1C-related disorder	2022-02-04	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).