ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.803C>T (p.Ala268Val)

gnomAD frequency: 0.00254  dbSNP: rs146992756
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251760 SCV000310994 benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514152 SCV000609815 likely benign not provided 2017-06-12 criteria provided, single submitter clinical testing
Invitae RCV001085184 SCV001020631 benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000514152 SCV001869653 benign not provided 2020-06-01 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21204792, 22967285)

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