ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.2034G>A (p.Thr678=)

gnomAD frequency: 0.00041  dbSNP: rs139298853
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000349452 SCV000341371 likely benign not specified 2016-05-09 criteria provided, single submitter clinical testing
Invitae RCV000872629 SCV001014478 likely benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2023-09-04 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001134336 SCV001294073 likely benign Holoprosencephaly 9 2018-03-06 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
CeGaT Center for Human Genetics Tuebingen RCV001701988 SCV004149106 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing GLI2: BP4, BP7
Clinical Genetics, Academic Medical Center RCV000349452 SCV001917071 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701988 SCV001932596 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001701988 SCV001973669 likely benign not provided no assertion criteria provided clinical testing

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