ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.1612G>A (p.Val538Ile)

gnomAD frequency: 0.00015  dbSNP: rs767492816
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001468837 SCV001672903 likely benign Multiple congenital exostosis 2023-08-16 criteria provided, single submitter clinical testing

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