ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.2148G>A (p.Pro716=)

gnomAD frequency: 0.00002  dbSNP: rs757499157
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592027 SCV000702504 uncertain significance not provided 2016-10-13 criteria provided, single submitter clinical testing
Invitae RCV003603058 SCV001117557 likely benign Multiple congenital exostosis 2023-12-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980078 SCV004787711 likely benign EXT1-related disorder 2019-04-04 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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