Submissions for variant NM_198525.3(KIF7):c.516G>A (p.Glu172=)

gnomAD frequency: 0.00032  dbSNP: rs199959946

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000193296	SCV000114866	likely benign	not specified	2018-03-27	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000193296	SCV000247741	uncertain significance	not specified	2014-06-27	criteria provided, single submitter	clinical testing
Invitae	RCV000887476	SCV001031032	benign	Acrocallosal syndrome	2023-12-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000887476	SCV001273307	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV003390782	SCV004130873	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	KIF7: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003935073	SCV004749892	benign	KIF7-related condition	2019-07-19	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).