ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.996G>A (p.Arg332=)

gnomAD frequency: 0.00764  dbSNP: rs146912721
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443695 SCV000522282 benign not specified 2016-09-15 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 RCV000540228 SCV000656657 benign 3-methylglutaconic aciduria, type VIIB 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002263682 SCV002544588 benign not provided 2024-02-01 criteria provided, single submitter clinical testing CLPB: BP4, BS1, BS2

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