Submissions for variant NM_015634.4(KIFBP):c.518T>C (p.Met173Thr)

gnomAD frequency: 0.00610  dbSNP: rs62625033

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000146133	SCV000193351	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000146133	SCV000332092	benign	not specified	2015-06-15	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000710152	SCV000613920	benign	not provided	2018-01-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000146133	SCV000728609	benign	not specified	2017-08-08	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000710152	SCV001097674	benign	not provided	2024-01-19	criteria provided, single submitter	clinical testing
Mendelics	RCV000710152	SCV001135026	likely benign	not provided	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001106691	SCV001263778	benign	Goldberg-Shprintzen 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.
CeGaT Center for Human Genetics Tuebingen	RCV000710152	SCV004126652	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	KIFBP: BS2
PreventionGenetics, part of Exact Sciences	RCV003975151	SCV004795210	benign	KIFBP-related condition	2019-09-26	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).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000710152	SCV001799011	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000146133	SCV001973586	benign	not specified		no assertion criteria provided	clinical testing