ClinVar Miner

Submissions for variant NM_152416.4(NDUFAF6):c.421-13_421-12del

dbSNP: rs79118993
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001515690 SCV001723819 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001515690 SCV001945952 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001779025 SCV002016104 benign Fanconi renotubular syndrome 5 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001779024 SCV002016105 benign Mitochondrial complex 1 deficiency, nuclear type 17 2021-09-05 criteria provided, single submitter clinical testing
GeneDx RCV000615960 SCV000731129 benign not specified 2017-06-19 flagged submission 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.

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