ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.962+3_962+6del

dbSNP: rs1586279285
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000002609 SCV002519619 pathogenic Exostoses, multiple, type 1 2022-05-04 criteria provided, single submitter clinical testing
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV003478970 SCV004218532 likely pathogenic Chondrosarcoma criteria provided, single submitter clinical testing
OMIM RCV000002609 SCV000022767 pathogenic Exostoses, multiple, type 1 2009-05-01 no assertion criteria provided literature only

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