ClinVar Miner

Submissions for variant NM_001291412.2(SON):c.245-2376_245-2375del (rs886039774)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624270 SCV000740704 pathogenic Inborn genetic diseases 2014-07-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: CANDIDATE: Alteration(s) of Potential Clinical Relevance Detected
OMIM RCV000256204 SCV000322739 pathogenic ZTTK syndrome 2016-11-02 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV000256204 SCV000883000 likely pathogenic ZTTK syndrome 2016-09-01 no assertion criteria provided research

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