ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1125G>A (p.Met375Ile) (rs148091558)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000271456 SCV000344853 uncertain significance not provided 2016-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275051 SCV000463870 uncertain significance Methylmalonic acidemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000534927 SCV000641772 likely benign Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-03-27 criteria provided, single submitter clinical testing

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