Submissions for variant NM_198525.3(KIF7):c.3944C>T (p.Pro1315Leu)

gnomAD frequency: 0.00138  dbSNP: rs150248985

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175498	SCV000226985	likely benign	not specified	2017-04-18	criteria provided, single submitter	clinical testing
GeneDx	RCV001200207	SCV000518379	benign	not provided	2019-02-18	criteria provided, single submitter	clinical testing
Invitae	RCV000529413	SCV000636834	likely benign	Acrocallosal syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000529413	SCV001280244	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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV001200207	SCV001371107	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	KIF7: BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001200207	SCV001740677	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001200207	SCV001798518	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001200207	SCV001973430	likely benign	not provided		no assertion criteria provided	clinical testing