ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.1519G>A (p.Val507Ile)

gnomAD frequency: 0.00022  dbSNP: rs567445428
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
Invitae RCV001418919 SCV001621162 likely benign Exostoses, multiple, type 2 2021-10-21 criteria provided, single submitter clinical testing

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