Submissions for variant NM_198525.3(KIF7):c.612C>T (p.His204=)

gnomAD frequency: 0.00021  dbSNP: rs398124613

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000723616	SCV000114867	uncertain significance	not provided	2013-04-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000247230	SCV000317000	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000723616	SCV000968531	likely benign	not provided	2020-10-17	criteria provided, single submitter	clinical testing
Invitae	RCV001086808	SCV001091735	likely benign	Acrocallosal syndrome	2024-01-19	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001086808	SCV001280574	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.