ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.3892C>T (p.Pro1298Ser)

gnomAD frequency: 0.01651  dbSNP: rs114376238
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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) RCV000081287 SCV000113195 benign not specified 2013-08-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000081287 SCV000310982 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000341975 SCV000416226 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001705755 SCV000603840 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000534335 SCV000655231 benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001705755 SCV001889418 benign not provided 2021-03-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19223936, 24744436, 29260090, 22967285)
CeGaT Center for Human Genetics Tuebingen RCV001705755 SCV004149118 benign not provided 2024-03-01 criteria provided, single submitter clinical testing GLI2: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001705755 SCV005262753 likely benign not provided criteria provided, single submitter not provided

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