Submissions for variant NM_198525.3(KIF7):c.2501A>G (p.Gln834Arg)

gnomAD frequency: 0.00308  dbSNP: rs138354681

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000239249	SCV000297406	likely benign	not specified	2015-10-02	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000239249	SCV000331462	likely benign	not specified	2015-12-08	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514812	SCV000609825	likely benign	not provided	2017-04-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086870	SCV000636826	benign	Acrocallosal syndrome	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000514812	SCV000729014	likely benign	not provided	2021-05-12	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21552264, 29343940, 28700940)
Illumina Laboratory Services, Illumina	RCV001086870	SCV001274979	uncertain significance	Acrocallosal syndrome	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV000514812	SCV001961540	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	KIF7: BS2
Genetic Services Laboratory, University of Chicago	RCV000239249	SCV002069559	likely benign	not specified	2020-09-07	criteria provided, single submitter	clinical testing
Sydney Genome Diagnostics, Children's Hospital Westmead	RCV001328108	SCV001449457	likely benign	Nephronophthisis	2018-09-05	no assertion criteria provided	clinical testing