ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.4530T>C (p.Gly1510=)

gnomAD frequency: 0.00036  dbSNP: rs144700510
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242903 SCV000310986 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV002058186 SCV002410156 benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2022-07-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002058186 SCV002802940 likely benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2022-04-05 criteria provided, single submitter clinical testing

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