ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.94A>G (p.Ile32Val)

gnomAD frequency: 0.00004  dbSNP: rs769478020
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001930505 SCV002189784 likely benign Exostoses, multiple, type 2 2024-12-02 criteria provided, single submitter clinical testing

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