ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn) (rs114814747)

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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 RCV000174553 SCV000225871 benign not specified 2015-02-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000174553 SCV000310985 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000030731 SCV000416239 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.
Invitae RCV000548311 SCV000655235 benign Holoprosencephaly 9; Culler-Jones syndrome 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000030731 SCV000053392 pathogenic Holoprosencephaly 9 2012-01-01 no assertion criteria provided literature only
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000030731 SCV000734140 benign Holoprosencephaly 9 no assertion criteria provided clinical testing

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