Submissions for variant NM_198525.3(KIF7):c.2896-14G>A

gnomAD frequency: 0.53577  dbSNP: rs9672296

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082814	SCV000114862	benign	not specified	2014-11-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000082814	SCV000316982	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000278582	SCV000394327	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000278582	SCV001731356	benign	Acrocallosal syndrome	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001711266	SCV001940573	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001730515	SCV001981092	benign	Multiple epiphyseal dysplasia, Al-Gazali type	2021-08-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001730516	SCV001981093	benign	Hydrolethalus syndrome 2	2021-08-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000278582	SCV001981094	benign	Acrocallosal syndrome	2021-08-19	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001711266	SCV005294915	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000082814	SCV001742810	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000082814	SCV001922121	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000082814	SCV001931686	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000082814	SCV001955162	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000082814	SCV001969174	benign	not specified		no assertion criteria provided	clinical testing