ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.3842G>T (p.Ser1281Ile)

gnomAD frequency: 0.00144  dbSNP: rs143877028
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732838 SCV000860830 uncertain significance not provided 2018-05-02 criteria provided, single submitter clinical testing
Invitae RCV001087881 SCV001098383 likely benign Acrocallosal syndrome 2024-01-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000732838 SCV001250422 uncertain significance not provided 2019-09-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001335631 SCV001528819 uncertain significance Multiple epiphyseal dysplasia, Al-Gazali type 2018-04-17 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV000732838 SCV001813474 likely benign not provided 2020-12-21 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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