ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.349-17T>C

gnomAD frequency: 0.00583  dbSNP: rs72650187
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513859 SCV000610468 likely benign not provided 2017-08-03 criteria provided, single submitter clinical testing
GeneDx RCV000607066 SCV000713921 likely benign not specified 2017-11-29 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 RCV001518792 SCV001727552 benign Methylmalonic aciduria, cblB type 2024-02-01 criteria provided, single submitter clinical testing

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