Submissions for variant NM_015634.4(KIFBP):c.68A>G (p.Glu23Gly)

gnomAD frequency: 0.00669  dbSNP: rs148768851

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000146134	SCV000193352	benign	not specified	2016-05-17	criteria provided, single submitter	clinical testing
GeneDx	RCV000146134	SCV000523110	benign	not specified	2017-12-04	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	RCV000888750	SCV001032403	benign	not provided	2023-12-13	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000984789	SCV001260388	benign	Goldberg-Shprintzen 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.
Fulgent Genetics, Fulgent Genetics	RCV000984789	SCV002798357	likely benign	Goldberg-Shprintzen syndrome	2021-08-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000888750	SCV004126651	benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	KIFBP: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003935246	SCV004752436	benign	KIFBP-related condition	2019-12-26	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).
Clinical Genetics, Erasmus University Medical Center	RCV000984789	SCV000994834	uncertain significance	Goldberg-Shprintzen syndrome	2019-05-16	no assertion criteria provided	clinical testing