Submissions for variant NM_198525.3(KIF7):c.1266C>G (p.Leu422=)

gnomAD frequency: 0.00552  dbSNP: rs8030837

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000179054	SCV000231246	benign	not specified	2016-04-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000179054	SCV000316965	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000407964	SCV000394352	benign	Acrocallosal syndrome	2018-01-12	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.
GeneDx	RCV001704854	SCV000519469	benign	not provided	2018-08-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000407964	SCV000636818	benign	Acrocallosal syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001704854	SCV005213969	likely benign	not provided		criteria provided, single submitter	not provided