ClinVar Miner

Submissions for variant NM_175614.2(NDUFA11):c.*1532G>C

gnomAD frequency: 0.00571  dbSNP: rs192066309
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200858 SCV000251768 benign not specified 2015-01-12 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.
CeGaT Center for Human Genetics Tuebingen RCV004597758 SCV005093439 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing NDUFA11: BS1
Breakthrough Genomics, Breakthrough Genomics RCV004597758 SCV005310140 benign not provided criteria provided, single submitter not provided

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