ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.1509A>G (p.Glu503=) (rs143773975)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000415759 SCV000493524 uncertain significance not provided 2016-09-30 criteria provided, single submitter clinical testing
GeneDx RCV000419409 SCV000526513 likely benign not specified 2018-02-02 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.
Illumina Clinical Services Laboratory,Illumina RCV000548897 SCV000375074 uncertain significance Charcot-Marie-Tooth disease type 4 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000548897 SCV000657940 likely benign Charcot-Marie-Tooth disease type 4 2017-05-16 criteria provided, single submitter clinical testing

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