ClinVar Miner

Submissions for variant NM_005005.3(NDUFB9):c.201C>T (p.Ala67=)

gnomAD frequency: 0.00135  dbSNP: rs142579814
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197811 SCV000251844 benign not specified 2014-08-28 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 RCV000677049 SCV001117505 likely benign not provided 2025-01-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000677049 SCV004010797 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing NDUFB9: BP4, BP7
Mayo Clinic Laboratories, Mayo Clinic RCV000677049 SCV000802884 likely benign not provided 2018-01-03 no assertion criteria provided clinical testing

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