ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg)

gnomAD frequency: 0.00203  dbSNP: rs138410949
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000513744 SCV000329378 likely benign not provided 2021-03-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 23891399, 26092869, 26648833, 21552264, 31322791)
Labcorp Genetics (formerly Invitae), Labcorp RCV000201541 SCV001020715 likely benign Acrocallosal syndrome 2024-01-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000201541 SCV001280350 benign 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen RCV000513744 SCV004130861 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing KIF7: BP4, BS2
Eurofins Ntd Llc (ga) RCV000513744 SCV000226370 uncertain significance not provided 2014-11-14 flagged submission clinical testing
UW Hindbrain Malformation Research Program, University of Washington RCV000201541 SCV000256440 pathogenic Acrocallosal syndrome 2015-02-23 flagged submission research
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513744 SCV000610688 uncertain significance not provided 2017-03-28 flagged submission clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252541 SCV001428298 uncertain significance Intellectual disability 2019-01-01 flagged submission clinical testing

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