ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.3514C>A (p.Arg1172=)

gnomAD frequency: 0.00150  dbSNP: rs138196132
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725922 SCV000340543 uncertain significance not provided 2016-03-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000305823 SCV000394319 uncertain significance Acrocallosal syndrome 2018-01-12 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000725922 SCV000726384 likely benign not provided 2021-04-22 criteria provided, single submitter clinical testing
Invitae RCV000305823 SCV001020733 benign Acrocallosal syndrome 2024-01-21 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000725922 SCV001921188 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000725922 SCV001929560 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000725922 SCV001951207 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000725922 SCV001965709 likely benign not provided no assertion criteria provided clinical testing

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