ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.2251C>T (p.Leu751=)

gnomAD frequency: 0.00033  dbSNP: rs200831069
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174542 SCV000225860 uncertain significance not provided 2014-12-10 criteria provided, single submitter clinical testing
Invitae RCV001088684 SCV001020027 likely benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000174542 SCV004149109 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing GLI2: BP4, BP7

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