ClinVar Miner

Submissions for variant NM_005270.4(GLI2):c.4332G>A (p.Met1444Ile) (rs146467786)

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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 RCV000438650 SCV000883948 benign not provided 2017-06-15 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000438650 SCV000510892 benign not provided 2016-10-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174551 SCV000225869 benign not specified 2014-07-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314146 SCV000416234 likely benign Holoprosencephaly sequence 2016-06-14 criteria provided, single submitter clinical testing

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