ClinVar Miner

Submissions for variant NM_005270.4(GLI2):c.4558G>A (p.Asp1520Asn) (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 RCV000266264 SCV000416239 likely benign Holoprosencephaly sequence 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000548311 SCV000655235 benign Holoprosencephaly 9; Culler-Jones syndrome 2017-10-29 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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