ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.*5C>G (rs557994288)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668640 SCV000793274 uncertain significance Methylmalonic acidemia with homocystinuria 2017-08-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347541 SCV000357934 uncertain significance Disorders of Intracellular Cobalamin Metabolism 2016-06-14 criteria provided, single submitter clinical testing

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