ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.570C>T (p.Asn190=)

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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 RCV003499254 SCV004274816 likely benign Exostoses, multiple, type 2 2023-06-06 criteria provided, single submitter clinical testing

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