Submissions for variant NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile)

gnomAD frequency: 0.52464  dbSNP: rs3803530

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082813	SCV000114861	benign	not specified	2013-03-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000082813	SCV000316981	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000316792	SCV000394328	benign	Acrocallosal syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Mendelics	RCV000316792	SCV001139687	benign	Acrocallosal syndrome	2019-05-28	criteria provided, single submitter	clinical testing
Invitae	RCV000316792	SCV001718603	benign	Acrocallosal syndrome	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001689633	SCV001910660	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001730513	SCV001981095	benign	Multiple epiphyseal dysplasia, Al-Gazali type	2021-08-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001730514	SCV001981096	benign	Hydrolethalus syndrome 2	2021-08-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000316792	SCV001981097	benign	Acrocallosal syndrome	2021-08-19	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000082813	SCV000151619	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000082813	SCV001739575	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000082813	SCV001918004	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000082813	SCV001926597	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000082813	SCV001952492	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000082813	SCV001965312	benign	not specified		no assertion criteria provided	clinical testing