ClinVar Miner

Submissions for variant NM_198525.2(KIF7):c.1895C>T (p.Pro632Leu) (rs115857753)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000422196 SCV000511311 likely benign not provided 2016-12-02 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000117414 SCV000258281 benign not specified 2015-06-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000117414 SCV000232809 benign not specified 2015-04-16 criteria provided, single submitter clinical testing
GeneDx RCV000117414 SCV000513415 benign not specified 2015-04-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000117414 SCV000151612 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000318904 SCV000394345 likely benign Acrocallosal syndrome, Schinzel type 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000318904 SCV000760083 benign Acrocallosal syndrome, Schinzel type 2017-11-15 criteria provided, single submitter clinical testing

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