Submissions for variant NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala)

gnomAD frequency: 0.90740  dbSNP: rs8037349

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082811	SCV000114859	benign	not specified	2018-03-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003891581	SCV000316964	benign	KIF7-related condition	2022-09-09	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Illumina Laboratory Services, Illumina	RCV000394862	SCV000394358	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.
Invitae	RCV000394862	SCV001718606	benign	Acrocallosal syndrome	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001668212	SCV001884348	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001730511	SCV001981105	benign	Multiple epiphyseal dysplasia, Al-Gazali type	2021-08-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001730512	SCV001981106	benign	Hydrolethalus syndrome 2	2021-08-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000394862	SCV001981107	benign	Acrocallosal syndrome	2021-08-19	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000082811	SCV000151607	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	RCV000082811	SCV001739592	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000082811	SCV001918323	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000082811	SCV001926811	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000082811	SCV001955329	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000082811	SCV001971542	benign	not specified		no assertion criteria provided	clinical testing