ClinVar Miner

Submissions for variant NM_175614.5(NDUFA11):c.54C>T (p.Cys18=)

gnomAD frequency: 0.00008  dbSNP: rs575038796
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000896545 SCV000719547 likely benign not provided 2021-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000896545 SCV001040642 benign not provided 2024-10-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945488 SCV004772411 likely benign NDUFA11-related disorder 2019-02-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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