ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.4282C>T (p.Leu1428Phe)

gnomAD frequency: 0.00465  dbSNP: rs146207623
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174550 SCV000225868 benign not specified 2014-07-10 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000354924 SCV000416235 likely benign Holoprosencephaly 9 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000438850 SCV000510935 benign not provided 2016-10-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000438850 SCV000883947 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086172 SCV001107075 benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000438850 SCV001898776 benign not provided 2019-08-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29891883, 24744436)
CeGaT Center for Human Genetics Tuebingen RCV000438850 SCV004149123 benign not provided 2024-01-01 criteria provided, single submitter clinical testing GLI2: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000438850 SCV005262757 likely benign not provided criteria provided, single submitter not provided

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