ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) (rs774738181)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000343943 SCV000692465 likely benign Propionyl-CoA carboxylase deficiency 2018-02-21 criteria provided, single submitter clinical testing several normal organic acids results
Counsyl RCV000343943 SCV000800715 uncertain significance Propionyl-CoA carboxylase deficiency 2018-05-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726318 SCV000343761 likely pathogenic not provided 2016-07-28 criteria provided, single submitter clinical testing

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