ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.3562C>T (p.Leu1188=)

gnomAD frequency: 0.00003  dbSNP: rs369264013
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000920712 SCV001066089 likely benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432916 SCV004149115 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing GLI2: BP4, BP7

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