ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.1935G>A (p.Ser645=)

gnomAD frequency: 0.00177  dbSNP: rs114259687
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174340 SCV000225624 benign not specified 2015-04-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003891710 SCV000310968 benign GLI2-related disorder 2019-06-11 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Illumina Laboratory Services, Illumina RCV000384359 SCV000416198 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000865443 SCV001006409 benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2024-01-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001727614 SCV002049567 benign not provided 2021-11-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000865443 SCV002803523 benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2022-02-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001727614 SCV004149105 benign not provided 2022-05-01 criteria provided, single submitter clinical testing GLI2: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001727614 SCV005262745 likely benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000174340 SCV001925700 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727614 SCV001971065 likely benign not provided no assertion criteria provided clinical testing

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