ClinVar Miner

Submissions for variant NM_024120.5(NDUFAF5):c.531T>C (p.Ile177=)

gnomAD frequency: 0.00083  dbSNP: rs148689921
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000889776 SCV001033483 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276991 SCV001463721 uncertain significance Leigh syndrome 2020-06-30 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003950378 SCV004760179 likely benign NDUFAF5-related disorder 2019-03-18 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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