ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.255-17G>T

gnomAD frequency: 0.00227  dbSNP: rs199499256
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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 RCV002162888 SCV002414086 benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2024-01-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709184 SCV005242669 benign not provided criteria provided, single submitter not provided

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