ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.568C>T (p.Arg190Cys) (rs398124434)

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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 RCV000790778 SCV000700308 pathogenic not provided 2017-05-02 criteria provided, single submitter clinical testing
GeneReviews RCV000203347 SCV000258527 pathogenic Methylmalonic aciduria cblB type 2016-01-07 no assertion criteria provided literature only
Counsyl RCV000203347 SCV001132248 likely pathogenic Methylmalonic aciduria cblB type 2019-01-09 no assertion criteria provided clinical testing

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