ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.1710G>A (p.Thr570=)

gnomAD frequency: 0.01154  dbSNP: rs61732852
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250361 SCV000310965 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000393209 SCV000416190 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000545543 SCV000655226 benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2024-01-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001546892 SCV001157113 benign not provided 2021-11-30 criteria provided, single submitter clinical testing
GeneDx RCV001546892 SCV001766493 likely benign not provided 2020-08-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001546892 SCV004149102 benign not provided 2024-05-01 criteria provided, single submitter clinical testing GLI2: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001546892 SCV005262740 likely benign not provided criteria provided, single submitter not provided

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