ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.231+47_231+50del (rs147037340)

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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 RCV000247194 SCV000110405 benign not specified 2012-11-15 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital RCV000235435 SCV000256859 benign Propionyl-CoA carboxylase deficiency 2011-01-01 criteria provided, single submitter research
PreventionGenetics RCV000247194 SCV000303456 benign not specified criteria provided, single submitter clinical testing

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