ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro) (rs144372453)

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Total submissions: 6
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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
PreventionGenetics,PreventionGenetics RCV000174544 SCV000310987 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000030728 SCV000416240 likely benign Holoprosencephaly 9 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
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).
Invitae RCV000871994 SCV001013739 benign Holoprosencephaly 9; Culler-Jones syndrome 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000030728 SCV000053389 pathogenic Holoprosencephaly 9 2012-01-01 no assertion criteria provided literature only

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