ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del) (rs796064513)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000351108 SCV000357931 uncertain significance Disorders of Intracellular Cobalamin Metabolism 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513646 SCV000608474 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing
Invitae RCV000513646 SCV001017859 likely benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Inserm U 954, Faculté de Médecine de Nancy RCV000190394 SCV000243928 not provided Methylmalonic acidemia with homocystinuria no assertion provided not provided

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