ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.3415G>T (p.Ala1139Ser)

gnomAD frequency: 0.61025  dbSNP: rs3738880
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081284 SCV000113192 benign not specified 2013-05-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000081284 SCV000310977 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000273393 SCV000416216 benign Holoprosencephaly 9 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV001650921 SCV001865319 benign not provided 2018-11-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001701658 SCV001933825 benign Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000273393 SCV001933826 benign Holoprosencephaly 9 2021-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055195 SCV002356947 benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001650921 SCV005242695 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000081284 SCV001739740 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000081284 SCV001926072 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000081284 SCV001955581 benign not specified no assertion criteria provided clinical testing

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