Submissions for variant NM_198525.3(KIF7):c.1788+13T>C

gnomAD frequency: 0.59982  dbSNP: rs1110060

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000248839	SCV000316969	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000248839	SCV000341546	benign	not specified	2016-05-12	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000375763	SCV000394346	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	RCV000375763	SCV001718605	benign	Acrocallosal syndrome	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001711754	SCV001940570	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001730651	SCV001981102	benign	Multiple epiphyseal dysplasia, Al-Gazali type	2021-08-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001730652	SCV001981103	benign	Hydrolethalus syndrome 2	2021-08-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000375763	SCV001981104	benign	Acrocallosal syndrome	2021-08-19	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001711754	SCV005294926	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000248839	SCV001919984	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000248839	SCV001928864	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000248839	SCV001964465	benign	not specified		no assertion criteria provided	clinical testing