ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1429-9_1429-6dup

dbSNP: rs762494923
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000266917 SCV000477318 uncertain significance Juvenile Polyposis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000324355 SCV000477319 uncertain significance Telangiectasia, hereditary hemorrhagic, type 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001510674 SCV001717770 benign Hereditary hemorrhagic telangiectasia 2023-12-10 criteria provided, single submitter clinical testing

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