ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.3477G>T (p.Gln1159His)

gnomAD frequency: 0.00181  dbSNP: rs139686081
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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) RCV000731901 SCV000859769 benign not specified 2018-03-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000873400 SCV001015385 benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2023-11-28 criteria provided, single submitter clinical testing
GeneDx RCV001712744 SCV001945818 benign not provided 2020-10-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003918209 SCV004739978 benign GLI2-related disorder 2023-05-26 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).
Breakthrough Genomics, Breakthrough Genomics RCV001712744 SCV005244618 benign not provided criteria provided, single submitter not provided

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