Submissions for variant NM_004523.4(KIF11):c.3126G>C (p.Leu1042Phe)

gnomAD frequency: 0.01412  dbSNP: rs34417963

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224738	SCV000281225	benign	not provided	2015-10-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000224738	SCV001099868	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000224738	SCV001811322	likely benign	not provided	2022-12-10	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Fulgent Genetics, Fulgent Genetics	RCV002500752	SCV002805466	likely benign	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	2021-07-20	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000224738	SCV005221912	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000224738	SCV001797935	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001699160	SCV001925954	benign	not specified		no assertion criteria provided	clinical testing