ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.582A>T (p.Arg194Ser) (rs1057519147)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000415894 SCV000493330 uncertain significance not provided 2016-08-01 criteria provided, single submitter clinical testing
Baumgartner lab,University Children's Hospital Zurich RCV001527671 SCV001738804 pathogenic Vitamin B12-responsive methylmalonic acidemia type cblB 2021-06-01 no assertion criteria provided clinical testing

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