ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.2037A>G (p.Ala679=)

gnomAD frequency: 0.00325  dbSNP: rs146059306
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242635 SCV000310969 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000290686 SCV000416199 benign Holoprosencephaly 9 2018-01-12 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.
Eurofins Ntd Llc (ga) RCV000242635 SCV000700658 benign not specified 2017-01-23 criteria provided, single submitter clinical testing
Invitae RCV000865122 SCV001006039 benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2023-11-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001727658 SCV003916130 benign not provided 2023-01-01 criteria provided, single submitter clinical testing GLI2: BP4, BP7, BS1, BS2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000242635 SCV001960147 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727658 SCV001968600 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000242635 SCV001978942 benign not specified no assertion criteria provided clinical testing

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