ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.1535A>T (p.Glu512Val)

gnomAD frequency: 0.00005  dbSNP: rs373383193
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420176 SCV000526078 benign not specified 2016-06-07 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000541599 SCV000656660 benign 3-methylglutaconic aciduria, type VIIB 2025-01-26 criteria provided, single submitter clinical testing

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