ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.1633-17C>T

gnomAD frequency: 0.01801  dbSNP: rs78949549
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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 RCV000245627 SCV000310964 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001618437 SCV001844251 benign not provided 2019-04-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001618437 SCV002048131 benign not provided 2021-09-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058185 SCV002344650 benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2024-01-22 criteria provided, single submitter clinical testing

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