ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.962+8_962+11del

dbSNP: rs138812713
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000271844 SCV000471530 benign Hereditary Multiple Osteochondromatosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000860960 SCV001001150 benign Multiple congenital exostosis 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001573397 SCV001911720 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23439489, 17301954)
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573397 SCV001799214 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001573397 SCV001807903 likely benign not provided no assertion criteria provided clinical testing

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