ClinVar Miner

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

gnomAD frequency: 0.00308  dbSNP: rs138354681
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Total submissions: 9
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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
Invitae 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 2024-01-01 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

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