Submissions for variant NM_006612.6(KIF1C):c.3071G>A (p.Arg1024Gln)

gnomAD frequency: 0.00204  dbSNP: rs141225452

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001090632	SCV000533877	likely benign	not provided	2021-03-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000525348	SCV000645947	likely benign	Spastic ataxia 2	2024-01-20	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001090632	SCV001246286	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	KIF1C: BS1
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848791	SCV002105328	likely benign	Hereditary spastic paraplegia	2021-02-23	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001090632	SCV001742613	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001090632	SCV001973366	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001090632	SCV002033894	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003902614	SCV004718881	likely benign	KIF1C-related disorder	2023-02-22	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).