ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.3979C>T (p.Leu1327=)

gnomAD frequency: 0.00073  dbSNP: rs149290823
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000264664 SCV000333555 likely benign not specified 2017-05-17 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000406286 SCV000416227 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001088889 SCV001014730 benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000872847 SCV001152394 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing GLI2: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003909928 SCV004724465 benign GLI2-related disorder 2023-06-22 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).

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