ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.1428G>A (p.Ala476=)

gnomAD frequency: 0.00001  dbSNP: rs750997439
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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 RCV001412025 SCV001614097 likely benign 3-methylglutaconic aciduria, type VIIB 2021-05-28 criteria provided, single submitter clinical testing
GeneDx RCV002285482 SCV002576113 likely benign not provided 2020-12-30 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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