ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.2997C>T (p.Asp999=)

gnomAD frequency: 0.02616  dbSNP: rs140479803
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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) RCV000174540 SCV000225858 benign not specified 2015-01-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000174540 SCV000310975 benign not specified 2016-03-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000307745 SCV000416211 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.
Invitae RCV000544199 SCV000655229 benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001618329 SCV001844464 benign not provided 2018-10-11 criteria provided, single submitter clinical testing

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