ClinVar Miner

Submissions for variant NM_001159773.2(CANT1):c.277_278del (p.Leu93fs) (rs587776897)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724659 SCV000227546 pathogenic not provided 2015-03-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622333 SCV000742795 pathogenic Inborn genetic diseases 2017-07-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
OMIM RCV000024007 SCV000045298 pathogenic Desbuquois dysplasia 1 2011-11-01 no assertion criteria provided literature only

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