ClinVar Miner

Submissions for variant NM_005270.4(GLI2):c.4663T>C (p.Ser1555Pro) (rs144372453)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174544 SCV000225862 benign not specified 2015-02-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323793 SCV000416240 likely benign Holoprosencephaly sequence 2016-06-14 criteria provided, single submitter clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000174544 SCV000864343 likely benign not specified 2017-05-15 criteria provided, single submitter clinical testing BS1, BP6; This alteration has an allele frequency that is greater than expected for the associated disease, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
OMIM RCV000030728 SCV000053389 pathogenic Holoprosencephaly 9 2012-01-01 no assertion criteria provided literature only
PreventionGenetics RCV000174544 SCV000310987 likely benign not specified criteria provided, single submitter clinical testing

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