ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.57G>C (p.Arg19=)

gnomAD frequency: 0.00001  dbSNP: rs112362953
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000978096 SCV001126020 likely benign 3-methylglutaconic aciduria, type VIIB 2024-12-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002511006 SCV002821643 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing CLPB: BP4, BP7

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