ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.78C>T (p.Pro26=)

gnomAD frequency: 0.00009  dbSNP: rs373668718
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000876489 SCV001019068 likely benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2024-01-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895375 SCV004713411 likely benign GLI2-related condition 2021-01-05 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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