ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.693C>T (p.Arg231=)

gnomAD frequency: 0.00027  dbSNP: rs149932193
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000653271 SCV000534440 likely benign not provided 2021-04-14 criteria provided, single submitter clinical testing
Invitae RCV002063595 SCV002328728 likely benign 3-methylglutaconic aciduria, type VIIB 2024-01-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000653271 SCV004137234 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing CLPB: BP4, BP7

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