ClinVar Miner

Submissions for variant NM_001077418.3(TMEM231):c.582+17T>A (rs2738801)

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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 RCV000248128 SCV000306342 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000248128 SCV000516422 benign not specified 2016-01-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000610509 SCV000743760 benign Joubert syndrome 20 2017-07-28 criteria provided, single submitter clinical testing
Invitae RCV001518073 SCV001726707 benign Joubert syndrome 20; Meckel syndrome, type 11 2020-11-27 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000610509 SCV000733516 benign Joubert syndrome 20 no assertion criteria provided clinical testing

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