ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.566G>A (p.Arg189His) (rs761221416)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000477781 SCV000791943 uncertain significance Methylmalonic acidemia with homocystinuria 2017-06-02 criteria provided, single submitter clinical testing
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477781 SCV000536697 uncertain significance Methylmalonic acidemia with homocystinuria 2016-08-15 no assertion criteria provided research

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