ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.1429-9_1429-6dup (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 Clinical Services Laboratory,Illumina RCV000266917 SCV000477318 uncertain significance Juvenile Polyposis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000324355 SCV000477319 uncertain significance Hereditary hemorrhagic telangiectasia type 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001510674 SCV001717770 benign Hereditary hemorrhagic telangiectasia 2020-11-19 criteria provided, single submitter clinical testing

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