ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.3497A>G (p.Glu1166Gly) (rs1554820858)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623279 SCV000740952 uncertain significance Inborn genetic diseases 2015-09-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
CeGaT Praxis fuer Humangenetik Tuebingen RCV001093199 SCV001250059 uncertain significance not provided 2019-09-01 criteria provided, single submitter clinical testing

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