ClinVar Miner

Submissions for variant NM_030813.6(CLPB):c.661G>A (p.Gly221Ser)

gnomAD frequency: 0.00247  dbSNP: rs150552809
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000653275 SCV000775154 benign 3-methylglutaconic aciduria, type VIIB 2024-01-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001532180 SCV001747617 likely benign not provided 2021-03-01 criteria provided, single submitter clinical testing
GeneDx RCV001532180 SCV001881533 benign not provided 2020-06-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002534195 SCV003703060 likely benign Inborn genetic diseases 2021-10-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics RCV001532180 SCV005212086 likely benign not provided criteria provided, single submitter not provided

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