Submissions for variant NM_015634.4(KIFBP):c.196G>A (p.Gly66Ser)

dbSNP: rs2255607

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000146132	SCV000193350	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000146132	SCV000312574	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000146132	SCV000519462	benign	not specified	2016-01-11	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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000600043	SCV000745071	benign	Goldberg-Shprintzen syndrome	2015-09-21	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000712142	SCV000842566	benign	not provided	2018-05-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000600043	SCV001262519	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.
Genome-Nilou Lab	RCV000600043	SCV001981015	benign	Goldberg-Shprintzen syndrome	2021-08-19	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000712142	SCV002509246	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000600043	SCV000732962	benign	Goldberg-Shprintzen syndrome		no assertion criteria provided	clinical testing