ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.754-7del

dbSNP: rs750770186
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000625155 SCV000743911 likely benign Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2014-10-09 criteria provided, single submitter clinical testing
Invitae RCV001510487 SCV001717531 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000625155 SCV002808126 likely benign Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2022-01-07 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700415 SCV001924087 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV001834977 SCV002077394 likely benign Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency 2019-10-24 no assertion criteria provided clinical testing

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