ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.1425A>G (p.Glu475=)

gnomAD frequency: 0.00027  dbSNP: rs533065326
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002110425 SCV002432120 benign Exostoses, multiple, type 2 2024-02-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003395406 SCV004130017 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing EXT2: BP4, BP7

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