ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.2136C>T (p.Phe712=)

dbSNP: rs151179617
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002124648 SCV002405018 benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2023-12-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003434421 SCV004149107 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing GLI2: BP4, BP7, BS1

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