ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.428G>T (p.Ser143Ile) (rs34886916)

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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 RCV000295930 SCV000416766 likely benign Disorders of Intracellular Cobalamin Metabolism 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350800 SCV000416767 likely benign Methylmalonic acidemia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000426507 SCV000513642 benign not specified 2016-04-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000641150 SCV000762772 benign Methylmalonic acidemia with homocystinuria cblD 2017-11-08 criteria provided, single submitter clinical testing

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