ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.3298G>T (p.Val1100Leu)

gnomAD frequency: 0.00222  dbSNP: rs147580961
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081283 SCV000113191 benign not specified 2013-08-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000081283 SCV000310976 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000327704 SCV000416214 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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514612 SCV000610727 likely benign not provided 2017-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055194 SCV002487667 benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2023-12-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000514612 SCV005262751 likely benign not provided criteria provided, single submitter not provided

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