ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.1452C>T (p.Ser484=) (rs115450389)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000251318 SCV000302335 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325915 SCV000477316 likely benign Juvenile Polyposis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382905 SCV000477317 likely benign Hereditary hemorrhagic telangiectasia type 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000858443 SCV000557847 benign Hereditary hemorrhagic telangiectasia 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000382905 SCV000603465 benign Hereditary hemorrhagic telangiectasia type 1 2019-04-13 criteria provided, single submitter clinical testing

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