ClinVar Miner

Submissions for variant NM_015087.5(SPART):c.364_365del (p.Met122fs) (rs775736341)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624566 SCV000740970 pathogenic Inborn genetic diseases 2015-07-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090324 SCV001245810 pathogenic not provided 2017-10-01 criteria provided, single submitter clinical testing
OMIM RCV000003622 SCV000023785 pathogenic Troyer syndrome 2010-04-01 no assertion criteria provided literature only
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000003622 SCV000891557 pathogenic Troyer syndrome 2017-12-30 no assertion criteria provided curation

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