ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.963C>G (p.Pro321=)

gnomAD frequency: 0.01440  dbSNP: rs149894186
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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 RCV000243972 SCV000310995 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000311962 SCV000416185 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 RCV001555140 SCV000603848 benign not provided 2023-11-06 criteria provided, single submitter clinical testing
Invitae RCV000526569 SCV000655236 benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001555140 SCV001776503 likely benign not provided 2021-09-18 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000243972 SCV001925199 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000243972 SCV001956555 benign not specified no assertion criteria provided clinical testing

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