ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.650T>A (p.Leu217Ter) (rs140356252)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000203334 SCV000799562 likely pathogenic Vitamin B12-responsive methylmalonic acidemia type cblA 2018-04-25 criteria provided, single submitter clinical testing
GeneReviews RCV000203334 SCV000258478 pathogenic Vitamin B12-responsive methylmalonic acidemia type cblA 2016-01-07 no assertion criteria provided literature only

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