ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.148+14C>T

gnomAD frequency: 0.00269  dbSNP: rs190309269
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248341 SCV000310959 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000266005 SCV000416176 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002058184 SCV002409019 benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2023-12-07 criteria provided, single submitter clinical testing

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