ClinVar Miner

Submissions for variant NM_015311.3(OBSL1):c.1255C>T (p.Arg419Cys) (rs79295927)

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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 RCV000362048 SCV000427845 uncertain significance Three M syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000893205 SCV001037123 likely benign not provided 2018-11-13 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000893205 SCV001153337 uncertain significance not provided 2019-02-01 criteria provided, single submitter clinical testing

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