ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.1080-6C>T

gnomAD frequency: 0.00003  dbSNP: rs752180821
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003497892 SCV001040844 likely benign Exostoses, multiple, type 2 2024-05-07 criteria provided, single submitter clinical testing

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