ClinVar Miner

Submissions for variant NM_005270.4(GLI2):c.4333C>T (p.Leu1445Phe) (rs146207623)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000438850 SCV000883947 benign not provided 2017-06-15 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000438850 SCV000510935 benign not provided 2016-10-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174550 SCV000225868 benign not specified 2014-07-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354924 SCV000416235 likely benign Holoprosencephaly sequence 2016-06-14 criteria provided, single submitter clinical testing

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